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    Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy.
    Endocrine 2018 Apr 12. Epub 2018 Apr 12.
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.
    Purpose: The purpose of this study is to summarize the effectiveness and safety of metreleptin in patients with congenital or acquired generalized lipodystrophy.

    Methods: Patients (n = 66) aged ≥6 months had lipodystrophy, low circulating leptin, and ≥1 metabolic abnormality (diabetes mellitus, insulin resistance, or hypertriglyceridemia). Metreleptin dose (once or twice daily) was titrated to a mean dose of 0. Read More

    Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis.
    Clin Diabetes Endocrinol 2018 27;4. Epub 2018 Mar 27.
    2Metabolism Endocrinology and Diabetes Division, Department of Internal Medicine, University of Michigan and Brehm Center for Diabetes, 1000 Wall Street, Room 5313, Ann Arbor, MI MI48105 USA.
    Background: Juvenile dermatomyositis (JDM) is an auto-immune muscle disease which presents with skin manifestations and muscle weakness. At least 10% of the patients with JDM present with acquired lipodystrophy. Laminopathies are caused by mutations in the lamin genes and cover a wide spectrum of diseases including muscular dystrophies and lipodystrophy. Read More

    Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives.
    Nucleus 2018 Jan;9(1):235-248
    a Sorbonne Université, Inserm UMR_S 938, Centre de Recherche Saint-Antoine, Institut Hospitalo-Universitaire de Cardio-métabolisme et Nutrition (ICAN) , Paris , France.
    Mutations in LMNA, encoding A-type lamins, are responsible for laminopathies including muscular dystrophies, lipodystrophies, and premature ageing syndromes. LMNA mutations have been shown to alter nuclear structure and stiffness, binding to partners at the nuclear envelope or within the nucleoplasm, gene expression and/or prelamin A maturation. LMNA-associated lipodystrophic features, combining generalized or partial fat atrophy and metabolic alterations associated with insulin resistance, could result from altered adipocyte differentiation or from altered fat structure. Read More

    Contribution of Adipose-Derived Factor D/Adipsin to Complement Alternative Pathway Activation: Lessons from Lipodystrophy.
    J Immunol 2018 Apr 12;200(8):2786-2797. Epub 2018 Mar 12.
    Division of Endocrinology, Metabolism and Lipid Research, Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110;
    Factor D (FD) is an essential component of the complement alternative pathway (AP). It is an attractive pharmaceutical target because it is an AP-specific protease circulating in blood. Most components of the complement activation pathways are produced by the liver, but FD is highly expressed by adipose tissue. Read More

    Congenital generalized lipodystrophy in Taiwan.
    J Formos Med Assoc 2018 Feb 22. Epub 2018 Feb 22.
    Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:
    Background: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by scarce adipose tissue. This disease is distributed worldwide, but little is known about these patients in the Chinese population. Here, we delineate the phenotype and prognosis of CGL in our cohort. Read More

    Anesthesia for patients with mutations: a case report.
    JA Clin Rep 2018 25;4(1):11. Epub 2018 Jan 25.
    Department of Anesthesiology, Tokyo Metropolitan Bokutoh Hospital, 4-23-15 Kotobashi, Sumida-ku, Tokyo, 130-8575 Japan.
    Background: Polymeraze I and transcript release factor () mutations are a newly recognized disease, which cause congenital generalized lipodystrophy associated with myopathy.

    Case Presentation: A 29-year-old man (height 126 cm; weight 22 kg) with a mutation was scheduled for mandibular dentigerous cystectomy. His primary symptoms were lipodystrophy, myopathy, long QT syndrome, refractory nephrosis, and abnormal lipid metabolism. Read More

    Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy.
    BMC Cardiovasc Disord 2018 01 12;18(1). Epub 2018 Jan 12.
    Faculty of Medicine, Federal University of Ceará, Fortaleza, Brazil.
    Background: Metabolic abnormalities in congenital generalized lipodystrophy (CGL) are associated with microvascular complications. However, the evaluation of different types of neuropathy in these patients, including the commitment of cardiovascular autonomic modulation, is scarce. The objective of the present study was to determine the prevalence of cardiovascular autonomic neuropathy (CAN) in patients with CGL compared with individuals with type 1 diabetes and healthy subjects. Read More

    A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
    J Clin Endocrinol Metab 2018 Mar;103(3):1005-1014
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas.
    Background: Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia, and atypical progeroid syndrome (APS). Five of the 31 previously reported patients with APS harbored a recurrent de novo heterozygous LMNA p.T10I mutation. Read More

    Clinical outcome in a series of pediatric patients with congenital generalized lipodystrophies treated with dietary therapy.
    J Pediatr Endocrinol Metab 2018 Jan;31(1):77-83
    Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Head of Nutrition Department, Combate de los pozos 1881, Buenos Aires 1245, Argentina.
    Background: Congenital generalized lipodystrophy (CGL) produces clinical features with severe metabolic consequences. Research has focused on measuring the response to the drugs. Nevertheless, there are no studies on the response to dietary therapy. Read More

    Congenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area.
    J Endocr Soc 2017 Aug 26;1(8):1012-1014. Epub 2017 Jun 26.
    Endocrinology Unit, Dos De Mayo Hospital, Lima, Peru (051) 15072.
    Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by the loss of body fat. The global prevalence of CGL is one in 10 million, and there are four subtypes. The case is presented of a 18-year-old woman from rural area of the north coast of Peru (Piura) with limited access to health services. Read More

    Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges.
    Diabetes Metab Syndr Obes 2017 13;10:375-383. Epub 2017 Sep 13.
    Complete HEOR Solutions (CHEORS), North Wales, PA, USA.
    Background: Lipodystrophy (LD; non-human immunodeficiency virus [HIV]-associated) syndromes are a rare body of disorders for which true prevalence is unknown. Prevalence estimates of rare diseases are important to increase awareness and financial resources. Current qualitative and quantitative estimates of LD prevalence range from ~0. Read More

    Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy.
    Diagn Interv Radiol 2017 Nov-Dec;23(6):428-434
    Department of Radiology, Dokuz Eylül University School of Medicine, İzmir, Turkey.
    Purpose: We aimed to investigate residual adipose tissue with whole-body magnetic resonance imaging to differentiate between subtypes of lipodystrophy.

    Methods: A total of 32 patients (12 with congenital generalized lipodystrophy [CGL], 1 with acquired generalized lipodystrophy [AGL], 12 with familial partial lipodystrophy [FPLD], and 7 with acquired partial lipodystrophy [APL]) were included.

    Results: Despite generalized loss of metabolically active adipose tissue, patients with CGL1 caused by AGPAT2 mutations had a significant amount of residual adipose tissue in the scalp, earlobes, retro-orbital region, and palms and soles. Read More

    Facial soft tissue volume decreases during metreleptin treatment in patients with partial and generalized lipodystrophy.
    Endocrine 2017 Nov 9;58(2):262-266. Epub 2017 Oct 9.
    Department of Oral and Maxillofacial Plastic Surgery, University of Leipzig, Leipzig, Germany.
    Purpose: Lipodystrophy (LD) patients suffer from loss or maldistribution of subcutaneous adipose tissue accompanied by dysregulation of several adipocyte-secreted factors, e.g., leptin. Read More

    Metabolic, Reproductive, and Neurologic Abnormalities in Agpat1-Null Mice.
    Endocrinology 2017 11;158(11):3954-3973
    Division of Nutrition and Metabolic Diseases, Center for Human Nutrition, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390.
    Defects in the biosynthesis of phospholipids and neutral lipids are associated with cell membrane dysfunction, disrupted energy metabolism, and diseases including lipodystrophy. In these pathways, the 1-acylglycerol-3-phosphate O-acyltransferase (AGPAT) enzymes transfer a fatty acid to the sn-2 carbon of sn-1-acylglycerol-3-phosphate (lysophosphatidic acid) to form sn-1, 2-acylglycerol-3-phosphate [phosphatidic acid (PA)]. PA is a precursor for key phospholipids and diacylglycerol. Read More

    Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.
    Gene 2017 Dec 12;637:57-62. Epub 2017 Sep 12.
    Department of Endocrinology, Fuzhou Children's Hospital of Fujian, Fujian Medical University Teaching Hospital, Fuzhou 350005, China.
    Background: Type 2 congenital generalized lipodystrophy (CGL2, OMIM 269700) is a rare autosomal recessive disease, characterized by the generalized absence of adipose tissue at birth or in early infancy. Pathogenic variants in BSCL2 gene have been reported to be responsible for CGL2. The aim of this study is to analyze the clinical and genetic characteristics of two Chinese patients with CGL2, and with particular focus on the BSCL2 gene sequence variants. Read More

    Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.
    Neuromuscul Disord 2017 Oct 1;27(10):923-930. Epub 2017 Jun 1.
    Department of Internal Medicine, Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey.
    Lipodystrophy is a heterogeneous group of disorders characterized by loss of adipose tissue. Here, we report on clinical spectra of neuromuscular manifestations of Turkish patients with lipodystrophy. Seventy-four patients with lipodystrophy and 20 healthy controls were included. Read More

    Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C.
    Am J Med Genet A 2017 Sep 7;173(9):2517-2521. Epub 2017 Jul 7.
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas.
    The LMNA gene contains 12 exons and encodes lamins A and C by alternative splicing within exon 10. While mutations in lamin A specific residues cause several diseases including lipodystrophy, progeria, muscular dystrophy, neuropathy, and cardiomyopathy, only three families with mutations in lamin C-specific residues are reported with cardiomyopathy, neuropathy, and muscular dystrophy so far. We now report two brothers with juvenile-onset generalized lipodystrophy due to a lamin C-specific mutation. Read More

    Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T mutation.
    Endocrinol Diabetes Metab Case Rep 2017 2;2017. Epub 2017 Jun 2.
    Departments of Endocrinology.
    Proteinuric renal disease is prevalent in congenital or acquired forms of generalized lipodystrophy. In contrast, an association between familial partial lipodystrophy (FPLD) and renal disease has been documented in very few cases. A 22-year-old female patient presented with impaired glucose tolerance, hyperinsulinemia, hirsutism and oligomenorrhea. Read More

    Metreleptin therapy lowers plasma angiopoietin-like protein 3 in patients with generalized lipodystrophy.
    J Clin Lipidol 2017 Mar - Apr;11(2):543-550. Epub 2017 Feb 24.
    Diabetes, Endocrinology, and Obesity Branch, NIDDK, NIH, Bethesda, MD, USA.
    Background: Reduced triglyceride clearance due to impaired lipoprotein lipase-mediated lipolysis contributes to severe hypertriglyceridemia in lipodystrophy. Angiopoietin-like protein 3 (ANGPTL3) and 4 (ANGPTL4) impair clearance of triglycerides by inhibiting lipoprotein lipase. Whether circulating ANGPTL3/4 levels are altered in lipodystrophy and the effects of leptin replacement on these ANGPTLs are unknown. Read More

    MECHANISTIC INSIGHTS INTO OSTEOPOROSIS IN PATIENTS WITH LIPODYSTROPHY AND REVIEW OF THE LITERATURE.
    Endocr Pract 2017 Jul 27;23(7):857-862. Epub 2017 Apr 27.
    Objective: To demonstrate the underlying pathogenesis of osteoporosis occurring in patients with lipodystrophy.

    Methods: MEDLINE was searched using the following key terms: lipodystrophy, osteoporosis, and reduced bone mineral density. Manual searching identified additional studies from the bibliographies of reports and reviews obtained in the MEDLINE search. Read More

    Wiedemann-Rautenstrauch syndrome: A phenotype analysis.
    Am J Med Genet A 2017 Apr 26. Epub 2017 Apr 26.
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
    Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and dental anomalies. Patients reported to date demonstrate a remarkable variability in phenotype, which hampers diagnostics. We performed a literature search, and analyzed 51 reported patients, using the originally reported patients as "gold standard. Read More

    Normal bone density and trabecular bone score, but high serum sclerostin in congenital generalized lipodystrophy.
    Bone 2017 Aug 6;101:21-25. Epub 2017 Apr 6.
    Department of Biochemistry, Biosciences Center, Natal, RN, Brazil; Institute of Tropical Medicine of Rio Grande do Norte, Natal, RN, Brazil; National Institute of Science and Technology of Tropical Diseases, Natal, RN, Brazil.
    Context: Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive syndrome characterized by a difficulty in storing lipids in adipocytes, low body fat mass, hypoleptinemia, and hyperinsulinemia. Sclerostin is a product of SOST gene that blocks the Wnt/β-catenin pathway, decreasing bone formation and enhancing adipogenesis. There are no data about sclerostin in people with BSCL. Read More

    Practical Review of Recognition and Management of Obesity and Lipohypertrophy in Human Immunodeficiency Virus Infection.
    Clin Infect Dis 2017 May;64(10):1422-1429
    Department of Medicine, University of Colorado School of Medicine, Aurora.
    Background: Obesity and lipohypertrophy are common in treated human immunodeficiency virus (HIV) infection and contribute to morbidity and mortality among HIV-infected adults on antiretroviral therapy (ART).

    Methods: We present a consensus opinion on the diagnosis, clinical consequences, and treatment of excess adiposity in adults with treated HIV infection.

    Results: Obesity and lipohypertrophy commonly occur among HIV-infected adults on ART and may have overlapping pathophysiologies and/or synergistic metabolic consequences. Read More

    Metreleptin Treatment in Three Patients with Generalized Lipodystrophy.
    Clin Med Insights Case Rep 2016 5;9:123-127. Epub 2017 Jan 5.
    Mayo Clinic, Rochester, MN, USA.
    Generalized lipodystrophy (GL) is a rare inherited or acquired disease characterized by widespread loss of subcutaneous fat, leading to leptin deficiency, ectopic fat deposition, and severe metabolic abnormalities. Previous studies have shown the benefit of leptin replacement (metreleptin) in ameliorating metabolic complications, but little is known about the experience of metreleptin treatment outside of a research setting. We report on post-marketing clinical experience with metreleptin therapy in three patients with GL and marked hypoleptinemia, uncontrolled diabetes, and hypertriglyceridemia. Read More

    Clinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review.
    J Clin Endocrinol Metab 2017 Feb;102(2):363-374
    Evidence-Based Practice Center and.
    Context: Lipodystrophy syndromes are characterized by generalized or partial absence of adipose tissue.

    Objective: We conducted a systematic review to synthesize data on clinical and metabolic features of lipodystrophy (age at onset, < 18 years).

    Data Source: Sources included Medline, Embase, Cochrane Library, Scopus and Non-Indexed Citations from inception through January 2016. Read More

    The long road to leptin.
    J Clin Invest 2016 Dec 1;126(12):4727-4734. Epub 2016 Dec 1.
    Leptin is an adipose tissue hormone that functions as an afferent signal in a negative feedback loop that maintains homeostatic control of adipose tissue mass. This endocrine system thus serves a critical evolutionary function by protecting individuals from the risks associated with being too thin (starvation) or too obese (predation and temperature dysregulation). Mutations in leptin or its receptor cause massive obesity in mice and humans, and leptin can effectively treat obesity in leptin-deficient patients. Read More

    Conversations between insulin and bone: Potential mechanism of high bone density in patients with Berardinelli-Seip Congenital Lipodystrophy.
    Med Hypotheses 2016 Dec 29;97:94-97. Epub 2016 Oct 29.
    Instituto de Medicina Tropical do Rio Grande do Norte, Natal, RN, Brazil; Departamento de Bioquímica, Centro de Biociências, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil; Institute of Science and Technology of Tropical Diseases, INCT-DT, Brazil.
    Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive syndrome characterized by a difficulty storing lipid in adipocytes, low body fat, hypertriglyceridemia, and fat liver. The serum leptin is usually very low, and serum insulin, as well as HOMA (homeostasis model assessment), is very high and correlated positively with bone mineral density (BMD). Despite deficiency/insufficiency of vitamin D, low body mass index, low daily calcium intake, physical inactivity, and menarche at a later age, BSCL patients usually have normal or even high BMD. Read More

    High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
    Am J Med Genet A 2017 Feb 21;173(2):471-478. Epub 2016 Nov 21.
    Department of Pathology, University of Washington, Seattle, Washington.
    Congenital generalized lipodystrophy (CGL) is a genetically heterogeneous group of disorders characterized by the absence of functional adipose tissue. We identified two pedigrees with CGL in the community of the Mestizo tribe in the northern region of Peru. Five cases, ranging from 15 months to 7 years of age, presented with generalized lipodystrophy, muscular prominence, mild intellectual disability, and a striking aged appearance. Read More

    Lipodystrophy Syndromes.
    Endocrinol Metab Clin North Am 2016 Dec 6;45(4):783-797. Epub 2016 Oct 6.
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-8537, USA. Electronic address:
    Lipodystrophies are heterogeneous disorders characterized by varying degrees of body fat loss and predisposition to insulin resistance and its metabolic complications. They are subclassified depending on degree of fat loss and whether the disorder is genetic or acquired. The two most common genetic varieties include congenital generalized lipodystrophy and familial partial lipodystrophy; the two most common acquired varieties include acquired generalized lipodystrophy and acquired partial lipodystrophy. Read More

    Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy.
    Traffic 2016 12 2;17(12):1297-1312. Epub 2016 Nov 2.
    Department of Molecular Physiology and Biophysics, Vanderbilt School of Medicine, Nashville, Tennessee.
    Congenital generalized lipodystrophy (CGL) and pulmonary arterial hypertension (PAH) have recently been associated with mutations in the caveolin-1 ( CAV1 ) gene, which encodes the primary structural protein of caveolae. However, little is currently known about how these CAV1 mutations impact caveolae formation or contribute to the development of disease. Here, we identify a heterozygous F160X CAV1 mutation predicted to generate a C-terminally truncated mutant protein in a patient with both PAH and CGL using whole exome sequencing, and characterize the properties of CAV1 , caveolae-associated proteins and caveolae in skin fibroblasts isolated from the patient. Read More

    Cardiac Manifestations of Congenital Generalized Lipodystrophy.
    Clin Diabetes 2016 Oct;34(4):181-186
    Division of Cardiology, University of Texas Health Science Center at San Antonio and Audie L. Murphy VA Hospital, San Antonio, TX.
    Congenital lipodystrophy is a rare genetic disorder characterized by a near-complete absence of fat cells, hypoleptinemia leading to a voracious appetite, and marked insulin resistance. This article focuses on the known cardiovascular manifestations of patients with congenital lipodystrophy, including cardiomyopathy, cardiac arrhythmias, and accelerated atherosclerosis arising from a markedly deranged metabolic milieu. Future research that targets leptin deficiency (metreleptin) and apoC3 mRNA (antisense oligonucleotide) could open a window for potential pharmacological treatment of this challenging disorder. Read More

    The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.
    J Clin Endocrinol Metab 2016 Dec 6;101(12):4500-4511. Epub 2016 Oct 6.
    National Institute of Diabetes and Digestive and Kidney Diseases (R.J.B., K.I.R.), National Institutes of Health, Bethesda, Maryland 20892; Department of Medicine (D.A.-V.), University of Santiago de Compostela, 15782 Santiago de Compostela, Spain; Department of Paediatrics and Adolescent Medicine (P.T.C.), The University of Hong Kong, Hong Kong Special Administrative Region, China; Department of Paediatrics (D.D.), University of Cambridge, Cambridge CB2 0QQ, United Kingdom; Metabolic Research Laboratories Wellcome Trust (D.D.), Medical Research Council (MRC) Institute of Metabolic Science, National Institute for Health Research Cambridge Comprehensive Biomedical Research Centre, MRC Epidemiology Unit, University of Cambridge, Cambridge CB2 0QQ, United Kingdom; Division of Nutrition and Metabolic Diseases (A.G.), Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas 75390; Royal North Shore Hospital (M.J.), Northern Clinical School, University of Sydney, St Leonards, NSW 2126, Australia; Department of Paediatrics and Child Health (L.M.), University of Nairobi, 00100 Nairobi, Kenya; Brehm Center for Diabetes and Division of Metabolism, Endocrinology, and Diabetes (E.A.O.), Department of Internal Medicine, University of Michigan Medical School and Health Systems, Ann Arbor, Michigan 48109; Division of Pediatric Endocrinology (N.P.), Department of Pediatrics, UT Southwestern Medical Center, Dallas, Texas 75390; Division of Pediatric Endocrinology and Diabetes (J.v.S., M.W.), Department of Pediatrics and Adolescent Medicine, University of Ulm, 89075 Ulm, Germany; Clamp Technologies Laboratory (E.S.), Endocrinology Research Center, and Laboratory of Molecular Endocrinology of Medical Scientific Educational Centre of Lomonosov, Moscow State University, Moscow 119991, Russia; Pediatric Endocrine Unit and Program in Nutritional Metabolism (T.S.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02115; Sorbonne Universities (C.V.), l'université Pierre et Marie Curie, University of Paris VI, Inserm Unité Mixte de Recherche en Santé 938, St-Antoine Research Center, Institute of Cardiometabolism and Nutrition, Assistance Publique-Hôpitaux de Paris, St-Antoine Hospital, Molecular Biology and Genetics Department, 75012 Paris, France; Department of Paediatric Endocrinology (R.W.), Cambridge University Hospitals NHS Trust, Cambridge CB2 0QQ, United Kingdom; and Division of Pediatric Endocrinology and Metabolism (T.Y.), Children's Medical Center, Osaka City General Hospital, Osaka City 534-0021, Japan.
    Objective: Lipodystrophy syndromes are extremely rare disorders of deficient body fat associated with potentially serious metabolic complications, including diabetes, hypertriglyceridemia, and steatohepatitis. Due to their rarity, most clinicians are not familiar with their diagnosis and management. This practice guideline summarizes the diagnosis and management of lipodystrophy syndromes not associated with HIV or injectable drugs. Read More

    Efficacy and Safety of Metreleptin in Patients with Partial Lipodystrophy: Lessons from an Expanded Access Program.
    J Diabetes Metab 2016 Mar 23;7(3). Epub 2016 Mar 23.
    Brehm Center for Diabetes Research and Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, MI, USA.
    Objective: Patients with lipodystrophy have severe metabolic abnormalities (insulin resistance, diabetes, and hypertriglyceridemia) that may increase morbidity and mortality. Metreleptin is approved by the United States Food and Drug Administration for treatment of generalized forms of lipodystrophy. We aimed to determine the efficacy and safety of metreleptin among patients with partial lipodystrophy using an expanded-access model. Read More

    Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.
    Hum Mol Genet 2016 12;25(23):5111-5125
    Cell Biology Section, Neurogenetics Branch.
    Hereditary spastic paraplegias (HSPs; SPG1-76 plus others) are length-dependent disorders affecting long corticospinal axons, and the most common autosomal dominant forms are caused by mutations in genes that encode the spastin (SPG4), atlastin-1 (SPG3A) and REEP1 (SPG31) proteins. These proteins bind one another and shape the tubular endoplasmic reticulum (ER) network throughout cells. They also are involved in lipid droplet formation, enlargement, or both in cells, though mechanisms remain unclear. Read More

    Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.
    Seizure 2016 Nov 5;42:1-6. Epub 2016 Sep 5.
    University Hospital of Verona, Department of Surgical Sciences, Gynecology and Pediatrics, Section of Child Neuropsychiatry, piazzale L.A. Scuro 10, 37134 Verona, Italy.
    Purpose: A small case series with a neurodegenerative disorder involving central nervous system and related to Seipin mutations was recently reported. Herein we describe clinical and EEG features of three patients presenting with Progressive Myoclonus Epilepsy (PME) and Congenital Generalized Lipodystrophy type 2 (CGL2) related to novel Seipin mutations.

    Methods: The EEG-clinical picture was evaluated at epilepsy onset and in the follow-up period. Read More

    Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases.
    Skeletal Radiol 2016 Nov 8;45(11):1495-506. Epub 2016 Sep 8.
    Rheumatology Department, Université Paris 06, DHU i2B, AP-HP, Saint-Antoine Hospital, 184, rue du Faubourg Saint-Antoine, 75012, Paris, France.
    Objective: To describe the bone imaging features of lipodystrophies in the largest cohort ever published.

    Materials And Methods: We retrospectively examined bone imaging data in 24 patients with lipodystrophic syndromes. Twenty-two had genetic lipodystrophy: 12/22 familial partial lipodystrophy (FPLD) and 10/22 congenital generalized lipodystrophy (CGL), 8 with AGPAT2-linked CGL1 and 2 with seipin-linked CGL2. Read More

    PTRF/Cavin-1 Deficiency Causes Cardiac Dysfunction Accompanied by Cardiomyocyte Hypertrophy and Cardiac Fibrosis.
    PLoS One 2016 9;11(9):e0162513. Epub 2016 Sep 9.
    Department of Cardiovascular Medicine, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.
    Mutations in the PTRF/Cavin-1 gene cause congenital generalized lipodystrophy type 4 (CGL4) associated with myopathy. Additionally, long-QT syndrome and fatal cardiac arrhythmia are observed in patients with CGL4 who have homozygous PTRF/Cavin-1 mutations. PTRF/Cavin-1 deficiency shows reductions of caveolae and caveolin-3 (Cav3) protein expression in skeletal muscle, and Cav3 deficiency in the heart causes cardiac hypertrophy with loss of caveolae. Read More

    Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy.
    J Clin Res Pediatr Endocrinol 2017 Mar 9;9(1):52-57. Epub 2016 Sep 9.
    Guangzhou Women and Children's Medical Center, Department of Genetics and Endocrinology, Guangzhou, China Phone: +862038076073 E-mail:
    Objective: To investigate the clinical and molecular features of congenital generalized lipodystrophy (CGL) in three Chinese patients with various typical manifestations.

    Methods: Data on clinical symptoms, results of laboratory analyses, and previous treatments in three Chinese patients were collected by a retrospective review of medical records. All coding regions and adjacent exon-intron junction regions of and genes were amplified by polymerase chain reaction and sequenced. Read More

    Leptin and Hormones: Energy Homeostasis.
    Endocrinol Metab Clin North Am 2016 Sep;45(3):633-45
    Division of Endocrinology, Diabetes and Metabolism, Department of Internal Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, 330 Brookline Avenue, ST 820, Boston, MA 02215, USA. Electronic address:
    Leptin, a 167 amino acid adipokine, plays a major role in human energy homeostasis. Its actions are mediated through binding to leptin receptor and activating JAK-STAT3 signal transduction pathway. It is expressed mainly in adipocytes, and its circulating levels reflect the body's energy stores in adipose tissue. Read More

    Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.
    Iran Biomed J 2016 Nov 25;20(5):295-301. Epub 2016 Jul 25.
    Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
    Background: Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing. Read More

    Assembly and Turnover of Caveolae: What Do We Really Know?
    Front Cell Dev Biol 2016 27;4:68. Epub 2016 Jun 27.
    Department of Molecular Physiology and Biophysics, Vanderbilt University School of MedicineNashville, TN, USA; Department of Cell and Developmental Biology, Vanderbilt University School of MedicineNashville, TN, USA; Epithelial Biology Program, Vanderbilt University School of MedicineNashville, TN, USA; Chemical and Physical Biology Program, Vanderbilt UniversityNashville, TN, USA.
    In addition to containing highly dynamic nanoscale domains, the plasma membranes of many cell types are decorated with caveolae, flask-shaped domains enriched in the structural protein caveolin-1 (Cav1). The importance of caveolae in numerous cellular functions and processes has become well-recognized, and recent years have seen dramatic advances in our understanding of how caveolae assemble and the mechanisms control the turnover of Cav1. At the same time, work from our lab and others have revealed that commonly utilized strategies such as overexpression and tagging of Cav1 have unexpectedly complex consequences on the trafficking and fate of Cav1. Read More

    Neuronal seipin knockout facilitates Aβ-induced neuroinflammation and neurotoxicity via reduction of PPARγ in hippocampus of mouse.
    J Neuroinflammation 2016 06 10;13(1):145. Epub 2016 Jun 10.
    State Key Laboratory of Reproductive Medicine, Hanzhong Road 140, Nanjing, 210029, China.
    Background: A characteristic phenotype of congenital generalized lipodystrophy 2 (CGL2) that is caused by loss-of-function of seipin gene is mental retardation. Seipin is highly expressed in hippocampal pyramidal cells and astrocytes. Neuronal knockout of seipin in mice (seipin-KO mice) reduces the hippocampal peroxisome proliferator-activated receptor gamma (PPARγ) level without the loss of pyramidal cells. Read More

    Raptor/mTORC1 loss in adipocytes causes progressive lipodystrophy and fatty liver disease.
    Mol Metab 2016 Jun 11;5(6):422-32. Epub 2016 Apr 11.
    Program in Molecular Medicine, University of Massachusetts Medical School, 373 Plantation Street, Worcester, MA 01605, USA.
    Objective: Normal adipose tissue growth and function is critical to maintaining metabolic homeostasis and its excess (e.g. obesity) or absence (e. Read More

    Lipodystrophy Due to Adipose Tissue-Specific Insulin Receptor Knockout Results in Progressive NAFLD.
    Diabetes 2016 08 10;65(8):2187-200. Epub 2016 May 10.
    Section on Integrative Physiology and Metabolism, Joslin Diabetes Center and Department of Medicine, Harvard Medical School, Boston, MA
    Ectopic lipid accumulation in the liver is an almost universal feature of human and rodent models of generalized lipodystrophy and is also a common feature of type 2 diabetes, obesity, and metabolic syndrome. Here we explore the progression of fatty liver disease using a mouse model of lipodystrophy created by a fat-specific knockout of the insulin receptor (F-IRKO) or both IR and insulin-like growth factor 1 receptor (F-IR/IGFRKO). These mice develop severe lipodystrophy, diabetes, hyperlipidemia, and fatty liver disease within the first weeks of life. Read More

    Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.
    Eur J Med Genet 2016 Jun 7;59(6-7):320-4. Epub 2016 May 7.
    Division of Nutrition and Metabolic Diseases, Center for Human Nutrition, Department of Internal Medicine, UT Southwestern Medical Center at Dallas, Dallas, TX, USA.
    Congenital generalized lipodystrophy type 4 is an extremely rare autosomal recessive disorder. We report our clinical experience on two unrelated Turkish patients with congenital generalized lipodystrophy type 4. A 13-year-old girl (patient-1) presented with generalized lipodystrophy and myopathy. Read More

    Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency.
    J Clin Endocrinol Metab 2016 Jul 4;101(7):2892-904. Epub 2016 May 4.
    From Sorbonne Universités, UPMC Univ Paris 6, and Inserm UMR_S938, Centre de Recherche St-Antoine, F-75012, Paris, France (L.S.-T., M.A., M.N., O.L., J.C., C.V.); Institute of Cardiometabolism and Nutrition (L.S.-T., M.A., O.L., J.C., C.V.), Groupe Hospitalier La Pitié-Salpêtrière, F-75013 Paris, France; Service d'Histologie et de Biologie Cellulaire (F.T.), Faculté de Médecine-Université de Limoges; AP-HP, Hôpital Tenon, Service de Biochimie et Hormonologie (J.C.), F-75020, Paris, France; Medical Genetics Center, Cairo, Egypt (S.M.E., E.E.); McGill University and Génome Québec Innovation Centre, Montréal, Canada (M.L.); Commissariat à l'Energie Atomique/Institut de Génomique/Centre National de Génotypage (M.D.), Evry, France; AP-HP, Hôpital St-Antoine, Laboratoire Commun de Biologie et Génétique Moléculaires, F-75012, Paris, France (O.L., C.V.); and Inserm UMR_S1087, L'Institut du Thorax (J.M.), F-44007 Nantes, France.
    Context: Mutations in PTRF encoding cavin-1 are responsible for congenital generalized lipodystrophy type 4 (CGL4) characterized by lipoatrophy, insulin resistance, dyslipidemia, and muscular dystrophy. Cavin-1 cooperates with caveolins to form the plasma membrane caveolae, which are involved in cellular trafficking and signalling and in lipid turnover.

    Objective: We sought to identify PTRF mutations in patients with CGL and to determine their impact on insulin sensitivity, adipose differentiation, and cellular autophagy. Read More

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