6,294 results match your criteria Lipodystrophy Localized


Female adipose tissue-specific Bscl2 knockout mice develop only moderate metabolic dysfunction when housed at thermoneutrality and fed a high-fat diet.

Sci Rep 2018 Dec 14;8(1):17863. Epub 2018 Dec 14.

The Rowett Institute, University of Aberdeen, Aberdeen, UK.

Mutations affecting the BSCL2 gene cause the most severe form of congenital generalised lipodystrophy. Affected individuals almost completely lack adipose tissue and suffer from severe diabetes and metabolic complications. Likewise, mice lacking Bscl2 in all tissues have dramatically reduced adipose mass, glucose intolerance and hyperinsulinaemia. Read More

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December 2018

p53-Sensitive Epileptic Behavior and Inflammation in Hypomorphic Mice.

Front Genet 2018 27;9:581. Epub 2018 Nov 27.

Department of Biology and Biotechnology, Sapienza University of Rome, Rome, Italy.

Epilepsy is a complex clinical condition characterized by repeated spontaneous seizures. Seizures have been linked to multiple drivers including DNA damage accumulation. Investigation of epilepsy physiopathology in humans imposes ethical and practical limitations, for this reason model systems are mostly preferred. Read More

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November 2018

Fat Mass Ratio in Brazilian HIV-infected Patients Under Antiretroviral Therapy and Its Relationship With Anthropometric Measurents.

J Clin Densitom 2018 Aug 22. Epub 2018 Aug 22.

Post Graduation Program in Medical Sciences, UFF, Brazil.

Introduction: Human immunodeficiency virus-related lipodystrophy is characterized by a variety of phenotypes and metabolic changes; however, consensus has not yet been reached on its diagnostic criteria. Different cutoff values for fat mass ratio have been proposed for this specific population as an objective diagnostic criterion for lipodystrophy. This study aimed to establish sex-specific reference values for fat mass ratio and to correlate them with anthropometric measurements for the diagnosis of human immunodeficiency virus-related lipodystrophy. Read More

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The Impact of Weight Gain During HIV Treatment on Risk of Pre-diabetes, Diabetes Mellitus, Cardiovascular Disease, and Mortality.

Front Endocrinol (Lausanne) 2018 27;9:705. Epub 2018 Nov 27.

Department of Endocrinology, St Vincent's Hospital, Sydney, NSW, Australia.

Since the introduction of combined antiretroviral therapy (cART) and more effective treatments for AIDS, there has been a dramatic shift from the weight loss and wasting that characterised HIV/AIDS (and still does in countries where cART is not readily available or is initiated late) to healthy weight, or even overweight and obesity at rates mirroring those seen in the general population. These trends are attributable to several factors, including the "" weight gain with reversal of the catabolic effects of HIV-infection following cART-initiation, strategies for earlier cART-initiation in the course of HIV-infection which have prevented many people living with HIV-infection from developing wasting, in addition to exposure to the modern obesogenic environment. Older cART regimens were associated with increased risk of body fat partitioning disorders (lipodystrophy) and cardiometabolic complications including atherothrombotic cardiovascular disease (CVD) and diabetes mellitus. Read More

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November 2018

Beneficial effects of leptin substitution on impaired eating behavior in lipodystrophy are sustained beyond 150 weeks of treatment.

Cytokine 2019 Jan 24;113:400-404. Epub 2018 Oct 24.

Department of Medicine, University Hospital Leipzig, 04103 Leipzig, Germany. Electronic address:

Aim: Metreleptin treatment in lipodystrophy patients improves eating behavior with increased satiety and reduced hunger. However, no data are available whether effects are maintained beyond 52 weeks of treatment.

Methods: A prospective study with measurements at baseline and at >150 weeks of metreleptin treatment was performed. Read More

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January 2019

Analysis of C3 Nephritic Factors by ELISA.

Authors:
Lillemor Skattum

Methods Mol Biol 2019 ;1901:177-182

Department of Laboratory Medicine, Section of Microbiology, Immunology and Glycobiology, Lund University, Lund, Sweden.

Autoantibodies to the C3 convertase of the alternative pathway of complement, called C3 nephritic factors (C3NeF), cause persistently low C3 in the circulation and production of C3 degradation fragments due to prolonged stabilization of the C3 convertase. C3NeF are associated with glomerulopathy, acquired partial lipodystrophy, and less frequently with increased susceptibility to meningococcal infection. Analysis of C3NeF is an important part of the diagnostic workup of C3 glomerulopathy, but their identification is difficult presumably due to considerable heterogeneity. Read More

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January 2019

The depot-specific and essential roles of CBP/p300 in regulating adipose plasticity.

J Endocrinol 2019 Feb;240(2):257-269

Naomi Berrie Diabetes Center, Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.

Fat remodeling has been extensively explored through protein deacetylation, but not yet acetylation, as a viable therapeutic approach in the management of obesity and related metabolic disorders. Here, we investigated the functions of key acetyltransferases CBP/p300 in adipose remodeling and their physiological effects by generating adipose-specific deletion of CBP (Cbp-AKO), p300 (p300-AKO) and double-knockout (Cbp/p300-AKO) models. We demonstrated that Cbp-AKO exhibited marked brown remodeling of inguinal WAT (iWAT) but not epididymal WAT (eWAT) after cold exposure and that this pattern was exaggerated in diet-induced obesity (DIO). Read More

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February 2019

Alternative oxidase-mediated respiration prevents lethal mitochondrial cardiomyopathy.

EMBO Mol Med 2018 Dec 10. Epub 2018 Dec 10.

Folkhälsan Research Center, Helsinki, Finland

Alternative oxidase (AOX) is a non-mammalian enzyme that can bypass blockade of the complex III-IV segment of the respiratory chain (RC). We crossed a AOX transgene into RC complex III (cIII)-deficient knock-in mice, displaying multiple visceral manifestations and premature death. The homozygotes expressing AOX were viable, and their median survival was extended from 210 to 590 days due to permanent prevention of lethal cardiomyopathy. Read More

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December 2018

Novel metabolic disorders in skeletal muscle of Lipodystrophic Bscl2/Seipin deficient mice.

Mol Cell Endocrinol 2018 Dec 4. Epub 2018 Dec 4.

Department of Physiology, Medical College of Georgia at Augusta University, Augusta, GA, 30912, USA. Electronic address:

Bscl2 mice recapitulate many of the major metabolic manifestations in Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) individuals, including lipodystrophy, hepatosteatosis, muscular hypertrophy, and insulin resistance. Metabolic defects in Bscl2 mice with regard to glucose and lipid metabolism in skeletal muscle have never been investigated. Here, we identified Bscl2 mice displayed reduced intramyocellular triglyceride (IMTG) content but increased glycogen storage predominantly in oxidative type I soleus muscle (SM). Read More

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December 2018
6 Reads

To absorb fat - supersize my lipid droplets.

J Clin Invest 2018 Dec 3. Epub 2018 Dec 3.

Diabetes and Obesity Research Center, NYU Winthrop Hospital, Mineola, New York, USA.

Lipins play important roles in adipogenesis, insulin sensitivity, and gene regulation, and mutations in these genes cause lipodystrophy, myoglobinuria, and inflammatory disorders. While all lipins (lipin 1, 2, and 3) act as phosphatidic acid phosphatase (PAP) enzymes, which are required for triacylglycerol (TAG) synthesis from glycerol 3-phosphate, lipin 1 has been the focus of most of the lipin-related research. In the current issue of the JCI, Zhang et al. Read More

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December 2018
1 Read

Structure of HIV-1 reverse transcriptase/d4TTP complex: novel DNA cross-linking site and pH-dependent conformational changes.

Protein Sci 2018 Nov 30. Epub 2018 Nov 30.

Center for Advanced Biotechnology and Medicine, and Department of Chemistry and Chemical Biology, Rutgers University, Piscataway, NJ, 08854.

Stavudine (d4T, 2',3'-didehydro-2',3'-dideoxythymidine) was one of the first chain-terminating nucleoside analogs used to treat HIV infection. We present the first structure of the active, triphosphate form of d4T (d4TTP) bound to a catalytic complex of HIV-1 RT/dsDNA template-primer. We also present a new strategy for disulfide (S-S) chemical cross-linking between N of a modified adenine at the second overhang base to I63C in the fingers subdomain of RT. Read More

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November 2018
1 Read

Up-regulation of PCSK9 gene expression and diminished level of LDL-receptor in rat liver as a potential cause of post-lipectomy hypercholesterolemia.

Mol Cell Biochem 2018 Nov 27. Epub 2018 Nov 27.

Department of Pharmaceutical Biochemistry, Faculty of Pharmacy, Medical University of Gdansk, Debinki 1, 80-211, Gdansk, Poland.

Studies designed to examine effects of fat mass reduction (including lipodystrophy and lipectomy) on human serum total and LDL-cholesterol concentrations are inconsistent. The purpose of this study was to examine effect of partial lipectomy in rats (as an experimental model of fat mass reduction in humans) on (1) circulating total cholesterol, LDL-cholesterol + VLDL-cholesterol and HDL-cholesterol concentrations, and (2) factors which may affect serum cholesterol concentrations such as: (a) liver LDL-receptor level, (b) expression of liver PCSK9 and (c) circulating PCSK9 concentration. Reduction of rat adipose tissue mass resulted in an increase in circulating total and LDL + VLDL-cholesterol concentrations, which was associated with (a) decrease in liver LDL-R level, (b) increase in liver PCSK9 expression, and (c) increase in circulating PCSK9 concentration as compared with sham controls. Read More

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November 2018
1 Read

Lack of Adipocytes Alters Hematopoiesis in Lipodystrophic Mice.

Front Immunol 2018 13;9:2573. Epub 2018 Nov 13.

Faculty of Biology and Medicine, Center for Integrative Genomics, Genopode, University of Lausanne, Lausanne, Switzerland.

Adult hematopoiesis takes place in the perivascular zone of the bone cavity, where endothelial cells, mesenchymal stromal/stem cells and their derivatives such as osteoblasts are key components of bone marrow (BM) niches. Defining the contribution of BM adipocytes to the hematopoietic stem cell niche remains controversial. While an excess of medullar adiposity is generally considered deleterious for hematopoiesis, an active role for adipocytes in shaping the niche has also been proposed. Read More

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November 2018
1 Read

Post Mortem Findings in a Young Male with Congenital Generalized Lipodystrophy, Type 4 due to CAVIN1 mutations.

J Clin Endocrinol Metab 2018 Nov 21. Epub 2018 Nov 21.

Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition; UT Southwestern Medical Center, Dallas, Texas, USA.

Context: Congenital generalized lipodystrophy, type 4 (CGL4) is a rare autosomal recessive disorder caused by CAVIN1 mutations. Patients with CGL4 also have myopathy and cardiomyopathy with a predisposition for sudden death due to ventricular arrhythmias. However, underlying pathology for these morbidities remains unknown. Read More

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November 2018
3 Reads

Geoffrey Harris Prize 2018: Novel pathways regulating neuroendocrine function, energy homeostasis and metabolism in humans.

Eur J Endocrinol 2018 Nov 1. Epub 2018 Nov 1.

C Mantzoros, Endocrinology, Beth Israel Deaconess Medical Center, Boston, 02215, United States.

The discovery of leptin, an adipocyte secreted hormone, set the stage for unraveling the mechanisms dictating energy homeostasis, revealing adipose tissue as an endocrine system that regulates appetite and body weight. Fluctuating leptin levels provide molecular signals to the brain regarding available energy reserves modulating energy homeostasis and neuroendocrine response in states of leptin deficiency and to a lesser extent in hyperleptinemic states. While leptin replacement therapy fails to provide substantial benefit in common obesity, it is effective treatment for congenital leptin deficiency and states of acquired leptin deficiency such as lipodystrophy. Read More

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November 2018
2 Reads

Abnormal lipid storage related to adipocyte shrinkage in acquired partial lipodystrophy (Barraquer-Simons syndrome).

J Eur Acad Dermatol Venereol 2018 Nov 25. Epub 2018 Nov 25.

Faculté de Médecine, Université de Strasbourg et Clinique Dermatologique, Hôpitaux Universitaires de Strasbourg, 1 place de l'Hôpital, 67091, Strasbourg, France.

Background: Acquired partial lipodystrophy (APL) is characterized by the gradual symmetrical loss of subcutaneous fat starting from the face, spreading towards the upper part of the body and sparing the lower extremities.

Objective: We report a 33- year-old woman with facial lipodystrophy, loss of buccal fat pads, and breast fat tissue. The subcutaneous fat was preserved in other anatomic regions, and we noted some excess of fat accumulation in the lower abdomen and thighs. Read More

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November 2018
4 Reads

New data in causes of autoinflammatory diseases.

Joint Bone Spine 2018 Nov 21. Epub 2018 Nov 21.

Centre national de référence des maladies auto-inflammatoires et de l'amylose inflammatoire (CEREMAIA), 94270 Le Kremlin-Bicêtre, France; Cellules souches, plasticité cellulaire, médecine régénératrice et immunothérapies, INSERM, Université de Montpellier, 34090 Montpellier, France; Département de génétique médicale, maladies rares et médecine personnalisée, CHU Montpellier, 34295 Montpellier, France.

The spectrum of factors known to mediate autoinflammation has broadened recently to include not only interleukin-1 (IL-1) and interferon, but also abnormalities that impair NF-κB pathway negative regulation. The NF-κB pathway is activated upon contact of a ligand with tumor necrosis factor receptor 1 (TNFR1) and plays a pivotal role in triggering the inflammatory process by producing major cytokines such as IL-1, IL-6, and TNF. Negative regulation of the NF-κB pathway, which is essential to stop the inflammatory process, depends on the level of ubiquitination of the proteins associated with TNFR1 and of other intermediate compounds. Read More

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November 2018
9 Reads

Changes in Waist Circumference in HIV-Infected Individuals Initiating a Raltegravir or Protease Inhibitor Regimen: Effects of Sex and Race.

Open Forum Infect Dis 2018 Nov 16;5(11):ofy201. Epub 2018 Nov 16.

University of California, Los Angeles, Los Angeles, California.

Background: This study investigates the association of clinical and demographic predictors with abdominal fat gain, measured using waist circumference (WC) and self-reported abdominal size.

Methods: We analyzed data from ACTG A5257, a clinical trial that randomized treatment-naïve HIV-infected participants to 1 of 3 antiretroviral regimens: raltegravir (RAL) or the protease inhibitors (PIs) atazanavir/ritonavir (ATV/r) or darunavir/ritonavir (DRV/r), each in combination with tenofovir disoproxil fumarate/emtricitabine. Associations of treatment and baseline/demographic characteristics with 96-week WC change were assessed using repeated-measures models. Read More

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November 2018
6 Reads

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.

J Med Genet 2018 Nov 21. Epub 2018 Nov 21.

Genetics and Molecular Medicine Department and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain.

Introduction: Phosphomannomutase-2 deficiency (PMM2-CDG) is associated with a recognisable facial pattern. There are no early severity predictors for this disorder and no phenotype-genotype correlation. We performed a detailed dysmorphology evaluation to describe facial gestalt and its changes over time, to train digital recognition facial analysis tools and to identify early severity predictors. Read More

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November 2018
2 Reads

Adipose Tissue Transplantation Ameliorates Lipodystrophy-associated Metabolic Disorders in Seipin-deficient Mice.

Am J Physiol Endocrinol Metab 2018 Nov 20. Epub 2018 Nov 20.

Institute of Cardiovascular Sciences, China.

Seipin deficiency is responsible for type 2 congenital generalized lipodystrophy with severe loss of adipose tissue and can lead to hepatic steatosis, insulin resistance (IR) and dyslipidemia in humans. Adipose tissue secretes many adipokines that are central to the regulation of metabolism. In this study, we investigated whether transplantation of normal adipose tissue could ameliorate severe hepatic steatosis, IR and dyslipidemia in lipoatrophic Seipin gene knockout (SKO) mice. Read More

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November 2018
5 Reads

Adipocyte Glucocorticoid Receptor Deficiency Promotes Adipose Tissue Expandability and Improves the Metabolic Profile Under Corticosterone Exposure.

Diabetes 2018 Nov 19. Epub 2018 Nov 19.

Sorbonne University, INSERM, Saint-Antoine Research Center (CRSA), Paris, France

Widely used for their anti-inflammatory and immunosuppressive properties, glucocorticoids are nonetheless responsible for the development of diabetes and lipodystrophy. Despite an increasing number of studies focused on the adipocyte glucocorticoid receptor (GR), its precise role in the molecular mechanisms of these complications remains unclear. In keeping with this goal, we generated a conditional adipocyte-specific murine model of GR invalidation (AdipoGR-knock-out [KO] mice). Read More

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November 2018
3 Reads
8.095 Impact Factor

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

Am J Hum Genet 2018 Dec 15;103(6):976-983. Epub 2018 Nov 15.

Department of Ophthalmology, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, N-5021 Bergen, Norway.

We have investigated a distinct disorder with progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acro-osteolysis. In six affected individuals from four families, we found one of two recurrent variants in discoidin domain receptor tyrosine kinase 2 (DDR2): c.1829T>C (p. Read More

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December 2018
6 Reads

Arm Contouring in the Massive-Weight-Loss Patient.

Clin Plast Surg 2019 Jan 22;46(1):85-90. Epub 2018 Oct 22.

Division of Plastic and Reconstructive Surgery, University of Rochester Medical Center, 601 Elmwood Avenue, Box 661, Rochester, NY 14642, USA. Electronic address:

Brachioplasty is an increasingly popular procedure performed for improved arm contour in the massive-weight-loss population. There are challenging deformities presented in this population, such as redundant skin, posterior arm lipodystrophy, and loosening of fascial layers of the upper arm and chest wall that must be addressed to achieve successful contour of the arms. Common complications can be minimized with meticulous technique and knowledge of surgical anatomy. Read More

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January 2019
7 Reads

Does Seipin Play a Role in Oxidative Stress Protection and Peroxisome Biogenesis? New Insights from Human Brain Autopsies.

Neuroscience 2018 Nov 15;396:119-137. Epub 2018 Nov 15.

Thyroid and Metabolic Diseases Unit (U.E.T.eM.), Department of Psychiatry, Radiology, Public Health, Nursing and Medicine (Medicine Area), Center for Research in Molecular Medicine and Chronic Diseases (CIMUS)-IDIS, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain. Electronic address:

Seipin is a widely expressed protein but with highest levels found in the brain and testes. Seipin function is not yet completely understood, therefore the aim of this study was to evaluate the expression of BSCL2 transcripts in the central nervous system (CNS) of humans and investigate the effect of their overexpression on a neuron model and their relationship with oxidative stress protection, as well as shed light on the pathogenic mechanisms of Celia's Encephalopathy. We analyzed the expression of BSCL2 transcripts using real-time RT-PCR in samples across the brain regions of subjects who underwent necropsy and from a case with Celia's Encephalopathy. Read More

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November 2018
1 Read

The origin and development of fat droplet and its role in health and illness.

Cas Lek Cesk 2018 ;157(5):254-262

Lipid droplets are found in most cells, where they are needed for lipid metabolism and energy homeostasis. Their biogenesis is still not entirely described process, in which an organelle with monomolecular layer on the surface originates from two-layer membrane of the smooth endoplasmic reticulum. Large lipid droplets can be formed either by growth or by fusion of smaller lipid droplets. Read More

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January 2018
2 Reads

Cellulite: a cosmetic or systemic issue? Contemporary views on the etiopathogenesis of cellulite.

Postepy Dermatol Alergol 2018 Oct 19;35(5):442-446. Epub 2018 Jul 19.

Department of Dermatology and Venerology, Medical University of Lodz, Lodz, Poland.

Cellulite (also known as gynoid lipodystrophy or orange peel syndrome) is one of the most common lipodystrophy syndromes, which affects millions of post-adolescent women. Cellulite is manifested by topographic disorders of subcutaneous tissue such as nodules, edema, and abnormal fibrosis. It is located mainly on the pelvic area, especially on the buttocks. Read More

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October 2018
3 Reads

Efficacy and safety of tenofovir disoproxil fumarate versus low-dose stavudine over 96 weeks: a multi-country randomised, non-inferiority trial.

J Acquir Immune Defic Syndr 2018 Nov 12. Epub 2018 Nov 12.

Chief Medical Officer, YRG Centre for AIDS Research & Education, Voluntary Health Services, Tidal Park Road, Taramani, Chennai 600113, India. Address: YRGCARE Medical Centre, VHS, Chennai, INDIA.

Background: Reducing doses of antiretroviral drugs, including stavudine (d4T), may lower toxicity, while preserving efficacy. There are substantial concerns about renal and bone toxicities of tenofovir disoproxil fumarate (TDF).

Setting: HIV-1-infected treatment-naive adults in India, South Africa and Uganda METHODS: A phase-4, 96-week, randomized, double-blind, non-inferiority trial compared d4T 20mg BD and TDF, taken in combination with lamivudine (3TC) and efavirenz (EFV). Read More

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November 2018
7 Reads

Regional Body Fat Changes and Metabolic Complications in Children with Dunnigan Lipodystrophy-causing LMNA Variants.

J Clin Endocrinol Metab 2018 Nov 9. Epub 2018 Nov 9.

Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas.

Context: Familial partial lipodystrophy, Dunnigan variety (FPLD2) is a rare autosomal dominant disorder due to heterozygous missense LMNA mutations. FPLD2 subjects gradually lose fat from the upper and lower extremities but gain fat in the face and neck around puberty. However, the precise onset of body fat changes and metabolic complications during childhood remains unknown. Read More

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November 2018
5 Reads

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Am J Hum Genet 2018 Dec 7;103(6):968-975. Epub 2018 Nov 7.

Division of Nutrition Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address:

Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome, is a rare disorder of unknown etiology. It has been proposed to be autosomal-recessive and is characterized by variable clinical features, such as intrauterine growth restriction and poor postnatal weight gain, characteristic facial features (triangular appearance to the face, convex nasal profile or pinched nose, and small mouth), widened fontanelles, pseudohydrocephalus, prominent scalp veins, lipodystrophy, and teeth abnormalities. A previous report described a single WRS patient with bi-allelic truncating and splicing variants in POLR3A. Read More

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December 2018
5 Reads
10.931 Impact Factor

Adipose tissue miRNA level variation through conjugated linoleic acid supplementation in diet-induced obese rats.

Adv Clin Exp Med 2018 Oct 31. Epub 2018 Oct 31.

Hyperlipidemia Research Center, Ahvaz Jundishapur University of Medical Sciences, Iran.

Background: Conjugated linoleic acid (CLA), which is an octadecadienoic acid isomer, is believed to play different positive physiological roles, such as lowering body fat. Due to some reported side effects of CLA, like lipodystrophy and impaired glucose metabolism, it is important to establish its safety by understanding detailed molecular mechanisms. One of these mechanisms may be the role of this dietary agent in modifying the function and activity of microRNAs (miRNAs). Read More

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October 2018
6 Reads

Does Complement Have a Role in the Pathogenesis of Alopecia Areata?

Skin Appendage Disord 2018 Oct 22;4(4):261-263. Epub 2018 Mar 22.

Department of Dermatology, University of California, Irvine, Irvine, California, USA.

Alopecia areata (AA) is an autoimmune disorder in which immune attack of the anagen follicle causes hair loss in approximately 2% of the population. Although the pathogenesis of AA has not been fully determined, most likely it is mediated by a variety of factors including cellular/humoral immunity and genetic predisposition. Researchers have been interested in the possible role of the complement pathway in AA since the 1970s. Read More

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October 2018
6 Reads

Phenotypic and Genetic Characteristics of Lipodystrophy: Pathophysiology, Metabolic Abnormalities, and Comorbidities.

Curr Diab Rep 2018 Nov 8;18(12):143. Epub 2018 Nov 8.

Brehm Center for Diabetes Research, Division of Metabolism, Endocrinology & Diabetes, Department of Internal Medicine, University of Michigan, 1000 Wall Street, Room 5313, Ann Arbor, MI, 48105, USA.

Purpose Of Review: This article focuses on recent progress in understanding the genetics of lipodystrophy syndromes, the pathophysiology of severe metabolic abnormalities caused by these syndromes, and causes of severe morbidity and a possible signal of increased mortality associated with lipodystrophy. An updated classification scheme is also presented.

Recent Findings: Lipodystrophy encompasses a group of heterogeneous rare diseases characterized by generalized or partial lack of adipose tissue and associated metabolic abnormalities including altered lipid metabolism and insulin resistance. Read More

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November 2018
12 Reads

Exploring Seipin: From Biochemistry to Bioinformatics Predictions.

Int J Cell Biol 2018 19;2018:5207608. Epub 2018 Sep 19.

Laboratório de Biologia Molecular e Genômica, Departamento de Biologia Celular e Genética, Centro de Biociências, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil.

Seipin is a nonenzymatic protein encoded by the gene. It is involved in lipodystrophy and seipinopathy diseases. Named in 2001, all seipin functions are still far from being understood. Read More

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September 2018
1 Read

The Mevalonate Pathway Is Indispensable for Adipocyte Survival.

iScience 2018 Nov 21;9:175-191. Epub 2018 Oct 21.

Laboratory of Molecular Function of Food, Division of Food Science and Biotechnology, Graduate School of Agriculture, Kyoto University, Uji, Kyoto, Japan; Research Unit for Physiological Chemistry, Center for the Promotion of Interdisciplinary Education and Research, Kyoto University, Kyoto, Japan. Electronic address:

The mevalonate pathway is essential for the synthesis of isoprenoids and cholesterol. Adipose tissue is known as a major site for cholesterol storage; however, the role of the local mevalonate pathway and its synthesized isoprenoids remains unclear. In this study, adipose-specific mevalonate pathway-disrupted (aKO) mice were generated through knockout of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) reductase (HMGCR). Read More

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November 2018
9 Reads

Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene.

DNA Cell Biol 2018 Nov 2. Epub 2018 Nov 2.

2 Laboratory of Medical Genetics, Tor Vergata Hospital , Rome, Italy .

Mandibular hypoplasia, deafness, and progeroid features, with concomitant lipodystrophy, define a multisystem disorder named MDPL syndrome. MDPL has been associated with heterozygous mutations in POLD1 gene resulting in loss of DNA polymerase δ activity. In this study, we report clinical, genetic, and cellular studies of a 13-year-old Pakistani girl, presenting growth retardation, sensorineural deafness, altered distribution of subcutaneous adipose tissue, and insulin resistance. Read More

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November 2018
9 Reads

Phenotypic Modulation of Skeletal Muscle Fibers in LPIN1-Deficient Lipodystrophic ( fld) Mice.

Vet Pathol 2018 Oct 31:300985818809126. Epub 2018 Oct 31.

3 Department of Medicine (Endocrinology), Albert Einstein College of Medicine, Bronx, NY, USA.

Lipin-1 ( Lpin1)-deficient lipodystrophic mice have scant and immature adipocytes and develop transient fatty liver early in life. Unlike normal mice, these mice cannot rely on stored triglycerides to generate adenosine triphosphate (ATP) from the β-oxidation of fatty acids during periods of fasting. To compensate, these mice store much higher amounts of glycogen in skeletal muscle and liver than wild-type mice in order to support energy needs during periods of fasting. Read More

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October 2018
15 Reads

Insulin Injection Technique in China Compared with the Rest of the World.

Diabetes Ther 2018 Dec 30;9(6):2357-2368. Epub 2018 Oct 30.

BD Diabetes Care, Erembodegem, Belgium.

Introduction: Approximately 9 million people in China use insulin but little is known of their injection techniques (IT). Our aim was to understand IT in China via direct examination and a detailed survey.

Methods: Injection Technique Questionnaire (ITQ) results of 3853 patients from 20 representative centers in China were compared with the Rest of World (ROW). Read More

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December 2018
2 Reads

Association of raltegravir use with long-term health outcomes in HIV-infected patients: an observational post-licensure safety study in a large integrated healthcare system.

HIV Clin Trials 2018 Oct 27:1-11. Epub 2018 Oct 27.

c Division of Research , Kaiser Permanente Northern California , Oakland , CA , USA.

Background: Raltegravir became the first integrase inhibitor to gain FDA approval; but with limited evidence documenting long-term risks in real world care, especially for major health outcomes of interest.

Objective: Assess raltegravir safety in clinical practice within an integrated health system.

Methods: We conducted a cohort study of HIV-infected adults within Kaiser Permanente California from 2005 to 2013. Read More

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October 2018
10 Reads

Update on Therapeutic Options in Lipodystrophy.

Curr Diab Rep 2018 Oct 29;18(12):139. Epub 2018 Oct 29.

Brehm Center for Diabetes Research, Division of Metabolism, Endocrinology & Diabetes, Department of Internal Medicine, University of Michigan, 1000 Wall Street, Room 5313, Ann Arbor, MI, 48105, USA.

Purpose Of Review: The purpose of this review is to summarize the therapeutic approach for lipodystrophy syndromes with conventional treatment options and metreleptin therapy in detail and to point out the current investigational treatments in development.

Recent Findings: The observation of leptin deficiency in patients with lipodystrophy and the potential of leptin replacement to rescue metabolic abnormalities in animal models of lipodystrophy were followed by the first clinical study of leptin therapy in patients with severe lipodystrophy. This and several other long-term studies demonstrated important benefits of recombinant human leptin (metreleptin) to treat metabolic abnormalities of lipodystrophy. Read More

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October 2018
6 Reads

[A case report of congenital generalized lipodystrophy].

Zhongguo Dang Dai Er Ke Za Zhi 2018 Oct;20(10):857-860

Department of Pediatrics, The First Affiliated Hospital of Jinan University, Guangzhou 510630, China.

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October 2018
5 Reads

18F-FDG Uptake in Subcutaneous Fat Preceding Clinical Diagnosis of Human Immunodeficiency Virus-Associated Lipodystrophy.

Clin Nucl Med 2018 Dec;43(12):e475-e476

From the Department of Radiology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.

A 62-year-old man with human immunodeficiency virus (HIV) on long-standing highly active antiretroviral therapy presented for F-FDG PET/CT evaluation of a pulmonary nodule. The examination showed unusual radiotracer distribution accumulating in the subcutaneous and visceral fat with low cerebral and skeletal muscle uptake. Imaging features were consistent with HIV-associated lipodystrophy, an unsuspected diagnosis that was later confirmed on physical examination. Read More

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December 2018
8 Reads

Review: Proposed Methods to Improve the Survival of Adipose Tissue in Autologous Fat Grafting.

Plast Reconstr Surg Glob Open 2018 Aug 3;6(8):e1870. Epub 2018 Aug 3.

Keck School of Medicine of USC, Los Angeles, Calif., 90033.

In 2009, the American Society of Plastic Surgeons Task Force on Autologous Fat Grafting (AFG) determined that autologous fat grafting was a safe procedure with a relatively low rate of complications. This consensus opinion unleashed a wave of popularity as plastic surgeons discovered the procedures' efficacy in a wide variety of cosmetic and reconstructive indications. Frequently reported cosmetic applications include soft-tissue augmentation of breast, buttocks, hips, face, and hands, whereas reconstructive applications include adjunct for breast reconstruction contour problems, plantar fat pad improvement, and correction of various posttraumatic and surgical contour deformities. Read More

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August 2018
13 Reads

Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome.

J Med Genet 2018 Dec 15;55(12):837-846. Epub 2018 Oct 15.

Department of Paediatrics, Amsterdam UMC - location AMC, University of Amsterdam, Amsterdam, The Netherlands.

Background: Wiedemann-Rautenstrauch syndrome (WRS) is a form of segmental progeria presenting neonatally, characterised by growth retardation, sparse scalp hair, generalised lipodystrophy with characteristic local fatty tissue accumulations and unusual face. We aimed to understand its molecular cause.

Methods: We performed exome sequencing in two families, targeted sequencing in 10 other families and performed in silico modelling studies and transcript processing analyses to explore the structural and functional consequences of the identified variants. Read More

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December 2018
16 Reads

A Single Complex Allele in a Patient With Partial Lipodystrophy.

Front Physiol 2018 26;9:1363. Epub 2018 Sep 26.

Center for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, Netherlands.

Genetic lipodystrophies are a group of rare syndromes associated with major metabolic complications - including severe insulin resistance, type 2 diabetes mellitus, and hypertriglyceridemia - which are classified according to the distribution of adipose tissue. Lipodystrophies can be present at birth or develop during life and can range from local to partial and general. With at least 18 different genes implicated so far, definite diagnosis can be challenging due to clinical and genetic heterogeneity. Read More

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September 2018
1 Read

PPARγ is a major regulator of branched-chain amino acid blood levels and catabolism in white and brown adipose tissues.

Metabolism 2018 Dec 11;89:27-38. Epub 2018 Oct 11.

Department of Physiology and Biophysics, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil. Electronic address:

Objective: We investigated whether PPARγ modulates adipose tissue BCAA metabolism, and whether this mediates the attenuation of obesity-associated insulin resistance induced by pharmacological PPARγ activation.

Methods: Mice with adipocyte deletion of one or two PPARγ copies fed a chow diet and rats fed either chow, or high fat (HF) or HF supplemented with BCAA (HF/BCAA) diets treated with rosiglitazone (30 or 15 mg/kg/day, 14 days) were evaluated for glucose and BCAA homeostasis.

Results: Adipocyte deletion of one PPARγ copy increased mice serum BCAA and reduced inguinal white (iWAT) and brown (BAT) adipose tissue BCAA incorporation into triacylglycerol, as well as mRNA levels of branched-chain aminotransferase (BCAT)2 and branched-chain α-ketoacid dehydrogenase (BCKDH) complex subunits. Read More

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December 2018
3 Reads

Sclerosing mesenteritis: a comprehensive clinical review.

Ann Transl Med 2018 Sep;6(17):336

Department of Internal Medicine, Mercer University School of Medicine, Macon, GA, USA.

Sclerosing mesenteritis is a rare disease entity initially described in 1924 with a prevalence reported to be less than 1%. Sclerosing mesenteritis is a comprehensive term used to describe three almost similar clinical entities including mesenteric panniculitis, retractile mesenteritis, and mesenteric lipodystrophy which only differ by their histology. The etiology of sclerosing mesenteritis is uncertain, but the disease has been associated with trauma, autoimmune disease, surgery, and malignancy. Read More

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September 2018
1 Read

Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.

Curr Med Res Opin 2018 Nov 9:1-10. Epub 2018 Nov 9.

d Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Universitaire Robert Debré , Service d'endocrinologie diabétologie pédiatrique, Centre de Compétence des Pathologies Rares de l'Insulino-Sécrétion et de l'Insulino-Sensibilité (PRISIS) , Paris , France.

Background: Lipodystrophic syndromes are rare diseases of genetic or acquired origin characterized by partial or generalized lack of body fat. Early detection and diagnosis are crucial to prevent and manage associated metabolic dysfunctions, i.e. Read More

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November 2018
5 Reads

Diabetes and HIV.

Curr Diab Rep 2018 Oct 8;18(11):125. Epub 2018 Oct 8.

National Obesity Center and Endocrine and Metabolic Diseases Unit, Yaoundé Central Hospital, Yaoundé, Cameroon.

Purpose Of Review: This review seeks to address the epidemiology and pathophysiological basis of the interaction between HIV infection and diabetes and the implication for treatment. Its importance stems from the current context of the growing burden of both conditions and the possible mechanisms of interactions that may exist but not yet sufficiently examined.

Recent Findings: HIV infection is associated with increased risk of insulin resistance, and ART is associated with metabolic derangement and the occurrence of type 2 diabetes. Read More

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October 2018
7 Reads

Human SEIPIN Binds Anionic Phospholipids.

Dev Cell 2018 10 4;47(2):248-256.e4. Epub 2018 Oct 4.

School of Biotechnology and Biomolecular Sciences, the University of New South Wales, Sydney, NSW 2052, Australia. Electronic address:

The biogenesis of lipid droplets (LDs) and the development of adipocytes are two key aspects of mammalian fat storage. SEIPIN, an integral membrane protein of the endoplasmic reticulum (ER), plays a critical role in both LD formation and adipogenesis. The molecular function of SEIPIN, however, has yet to be elucidated. Read More

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October 2018
9 Reads

Cardiometabolic assessment of lamin A/C gene mutation carriers: A phenotype-genotype correlation.

Diabetes Metab 2018 Oct 1. Epub 2018 Oct 1.

CHU de Lille, Endocrinology, Diabetology and Metabolism, Université de Lille, Inserm, UMR 1190, Translational research in diabetes, European Genomic Institute for Diabetes (EGID), 59000 Lille, France. Electronic address:

Aims: Mutations of the LMNA gene encoding lamin A/C induce heterogeneous phenotypes ranging from cardiopathies and myopathies to lipodystrophies. The aim of this study was to compare cardiometabolic complications in patients with heterozygous LMNA mutations at the 482nd codon, the 'hotspot' for partial lipodystrophy, with carriers of other, non-R482 LMNA mutations.

Methods And Results: This study included 29 patients with R482 LMNA mutations, 29 carriers of non-R482 LMNA mutation and 19 control subjects. Read More

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October 2018
2 Reads