2,979 results match your criteria acids inherited

Protective Effects of Morus nigra and Its Phytochemicals against Hepatotoxicity: A Review of Preclinical Studies.

Pharmacology 2021 Apr 13:1-11. Epub 2021 Apr 13.

Pharmacological Research Center of Medicinal Plants, Mashhad University of Medical Sciences, Mashhad, Iran.

Background: Our liver has a variety of vital functions including removing poisons, storing energy, immunological roles, and secretory and excretory functions. It may face some kinds of diseases caused by viruses, hepatotoxic chemicals, drugs, alcohol, and inherited disorders. Oxidative stress and inflammation are in the core of mechanisms of liver damages induced by viruses or chemical agents. Read More

View Article and Full-Text PDF

Plasma Phospholipidomic Profile Differs between Children with Phenylketonuria and Healthy Children.

J Proteome Res 2021 Apr 5. Epub 2021 Apr 5.

Mass Spectrometry Center, LAQV-REQUIMTE, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, 3810-193 Aveiro, Portugal.

Phenylketonuria (PKU) is a disease of the catabolism of phenylalanine (Phe), caused by an impaired function of the enzyme phenylalanine hydroxylase. Therapeutics is based on the restriction of Phe intake, which mostly requires a modification of the diet. Dietary restrictions can lead to imbalances in specific nutrients, including lipids. Read More

View Article and Full-Text PDF

AON-based degradation of c.151C>T mutant transcripts associated with dominantly inherited hearing impairment DFNA9.

Mol Ther Nucleic Acids 2021 Jun 1;24:274-283. Epub 2021 Mar 1.

Department of Otorhinolaryngology, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.

The c.151C>T founder mutation in is a frequent cause of late-onset, dominantly inherited hearing impairment and vestibular dysfunction (DFNA9) in the Dutch/Belgian population. The initial clinical symptoms only manifest between the 3rd and 5th decade of life, which leaves ample time for therapeutic intervention. Read More

View Article and Full-Text PDF

Nutrition and Exercise in a Case of Carnitine Palmitoyl-Transferase II Deficiency.

Front Physiol 2021 17;12:637406. Epub 2021 Mar 17.

Criams-Sport Medicine Centre Voghera, University of Pavia, Pavia, Italy.

In the mild subtype of inherited carnitine palmitoyltransferase II (CPTII) deficiency, muscular mitochondrial fatty acid β-oxidation is impaired. In this condition, interventions involve daily dietary restriction of fats and increase of carbohydrates, whereas physical exercise is commonly contraindicated due to the risk of muscle pain and rhabdomyolysis. We present the case of a 14-year-old female with CPTII deficiency who underwent a 1-h session of unsupervised exercise training for 6 months, 3 days per week, including interval and resistance exercises, after diet assessment and correction. Read More

View Article and Full-Text PDF

Non-Viral Gene Delivery Systems.

Henrique Faneca

Pharmaceutics 2021 Mar 26;13(4). Epub 2021 Mar 26.

CNC-Center for Neuroscience and Cell Biology, University of Coimbra, 3004-517 Coimbra, Portugal.

The advances in the field of gene therapy have significantly improved the possibility for nucleic acids as highly promising agents for the treatment of both inherited and acquired human diseases [... Read More

View Article and Full-Text PDF

Inhibition of Soluble Epoxide Hydrolase Ameliorates Phenotype and Cognitive Abilities in a Murine Model of Niemann Pick Type C Disease.

Int J Mol Sci 2021 Mar 26;22(7). Epub 2021 Mar 26.

Pharmacology and Toxicology Section and Institute of Neuroscience, Faculty of Pharmacy and Food Sciences, University of Barcelona, Av. Joan XXIII, 27-31, 08028 Barcelona, Spain.

Niemann-Pick type C (NPC) disease is a rare autosomal recessive inherited childhood neurodegenerative disease characterized by the accumulation of cholesterol and glycosphingolipids, involving the autophagy-lysosome system. Inhibition of soluble epoxide hydrolase (sEH), an enzyme that metabolizes epoxy fatty acids (EpFAs) to 12-diols, exerts beneficial effects in modulating inflammation and autophagy, critical features of the NPC disease. This study aims to evaluate the effects of UB-EV-52, an sEH inhibitor (sEHi), in an NPC mouse model (Npc) by administering it for 4 weeks (5 mg/kg/day). Read More

View Article and Full-Text PDF

Delivery Systems for Nucleic Acids and Proteins: Barriers, Cell Capture Pathways and Nanocarriers.

Pharmaceutics 2021 Mar 22;13(3). Epub 2021 Mar 22.

Grupo de Diseño de Productos y Procesos (GDPP), Department of Chemical and Food Engineering, Universidad de los Andes, Bogotá 111711, Colombia.

Gene therapy has been used as a potential approach to address the diagnosis and treatment of genetic diseases and inherited disorders. In this line, non-viral systems have been exploited as promising alternatives for delivering therapeutic transgenes and proteins. In this review, we explored how biological barriers are effectively overcome by non-viral systems, usually nanoparticles, to reach an efficient delivery of cargoes. Read More

View Article and Full-Text PDF

Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia.

J Steroid Biochem Mol Biol 2021 Mar 27;211:105882. Epub 2021 Mar 27.

Department of Endocrinology, The First Affiliated Hospital of Nanjing Medical University, No.300, Guangzhou Road, Nanjing, Jiangsu, 210029, China. Electronic address:

Steroid 11β-hydroxylase deficiency (11β-OHD), which is caused by mutations of the CYP11B1 gene, is the second leading cause of congenital adrenal hyperplasia (CAH), an autosomal recessive inherited disorder. Here, we report a case of classic 11β-OHD in a Chinese boy characterized by hypertension, penile enlargement, skin pigmentation, and acne. Molecular analysis of CYP11B1 revealed that the patient was compound heterozygous for a c. Read More

View Article and Full-Text PDF

The intestinal microbiota and metabolites in patients with anorexia nervosa.

Gut Microbes 2021 Jan-Dec;13(1):1-25

Department of Psychiatry, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

Brain-gut microbiota interactions are intensively studied in connection with various neurological and psychiatric diseases. While anorexia nervosa (AN) pathophysiology is not entirely clear, it is presumably linked to microbiome dysbiosis. We aimed to elucidate the gut microbiota contribution in AN disease pathophysiology. Read More

View Article and Full-Text PDF

Functional Study of the Human Riboflavin Transporter 2 Using Proteoliposomes System.

Methods Mol Biol 2021 ;2280:45-54

Department DiBEST (Biologia, Ecologia, Scienze della Terra) Unit of Biochemistry and Molecular Biotechnology, University of Calabria, Arcavacata di Rende, Italy.

Riboflavin is essential for cell viability. The biologically active forms of riboflavin, FMN and FAD, participate in many biochemical redox reactions including the metabolism of carbohydrates, amino acids, and lipids. Differently from bacteria, fungi, and plants which synthesize riboflavin, higher organisms have lost the ability to synthesize the vitamin and must absorb it from food and intestinal microflora production. Read More

View Article and Full-Text PDF
January 2021

Selective suppression of polyglutamine-expanded protein by lipid nanoparticle-delivered siRNA targeting CAG expansions in the mouse CNS.

Mol Ther Nucleic Acids 2021 Jun 15;24:1-10. Epub 2021 Feb 15.

Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Syowa-ku, Nagoya, Aichi 466-8550, Japan.

Polyglutamine (polyQ) diseases are inherited neurodegenerative disorders caused by expansion of cytosine-adenine-guanine (CAG)-trinucleotide repeats in causative genes. These diseases include spinal and bulbar muscular atrophy (SBMA), Huntington's disease, dentatorubral-pallidoluysian atrophy, and spinocerebellar ataxias. Targeting expanded CAG repeats is a common therapeutic approach to polyQ diseases, but concomitant silencing of genes with normal CAG repeats may lead to toxicity. Read More

View Article and Full-Text PDF

The Third Man: DNA sensing as espionage in pulmonary vascular health and disease.

Pulm Circ 2021 Jan-Mar;11(1):2045894021996574. Epub 2021 Mar 2.

University of Florida College of Medicine, Department of Medicine, Gainesville, FL, USA.

For as long as nucleic acids have been utilized to vertically and horizontally transfer genetic material, living organisms have had to develop methods of recognizing cytosolic DNA as either pathogenic (microbial invasion) or physiologic (mitosis and cellular proliferation). Derangement in key signaling molecules involved in these pathways of DNA sensing result in a family of diseases labeled interferonopathies. An interferonopathy, characterized by constitutive expression of type I interferons, ultimately manifests as severe autoimmune disease at a young age. Read More

View Article and Full-Text PDF

Nutritional perspectives on sickle cell disease in Africa: a systematic review.

BMC Nutr 2021 Mar 18;7(1). Epub 2021 Mar 18.

Department of Nutrition and Food Science, University of Ghana, Legon, Ghana.

Background: Sickle cell disease (SCD) is an inherited blood disorder that predominantly affects individuals in sub-Saharan Africa. However, research that elucidates links between SCD pathophysiology and nutritional status in African patients is lacking. This systematic review aimed to assess the landscape of studies in sub-Saharan Africa that focused on nutritional aspects of SCD, and highlights gaps in knowledge that could inform priority-setting for future research. Read More

View Article and Full-Text PDF

Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma.

JIMD Rep 2021 Mar 16;58(1):12-20. Epub 2020 Nov 16.

Department of Paediatric Neurology Cork University Hospital Cork Republic of Ireland.

A 4-year-old girl was referred for reassessment of dyskinetic cerebral palsy. Initial investigations in her country of birth, India, had not yielded a diagnosis. MRI brain in infancy revealed bilateral putamen hyperintensity. Read More

View Article and Full-Text PDF

Homogentisic Acid-Based Whole-Cell Biosensor for Detection of Alkaptonuria Disease.

Anal Chem 2021 03 3;93(10):4521-4527. Epub 2021 Mar 3.

Chemical Biology Laboratory, Department of Biotechnology, Indian Institute of Technology Roorkee, Roorkee 247667, Uttarakhand, India.

Clinicians require simple quantitative tools for the detection of homogentisic acid in alkaptonuria patients, a rare inherited disorder of amino acid metabolism. In this study, we report a whole-cell biosensor for homogentisic acid to detect alkaptonuria disease through the expression of green fluorescence protein. The assay system utilizes a promoter sequence (hmgA) isolated from the genome. Read More

View Article and Full-Text PDF

Stable Isotope Labeling of Amino Acids in Flies (SILAF) Reveals Differential Phosphorylation of Mitochondrial Proteins Upon Loss of OXPHOS Subunits.

Mol Cell Proteomics 2021 Feb 25;20:100065. Epub 2021 Feb 25.

Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden. Electronic address:

Drosophila melanogaster has been a workhorse of genetics and cell biology for more than a century. However, proteomic-based methods have been limited due to the complexity and dynamic range of the fly proteome and the lack of efficient labeling methods. Here, we advanced a chemically defined food source into direct stable-isotope labeling of amino acids in flies (SILAF). Read More

View Article and Full-Text PDF
February 2021

Genome-Wide Noninvasive Prenatal Diagnosis of De Novo Mutations.

Methods Mol Biol 2021 ;2243:249-269

Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Noninvasive prenatal diagnosis (NIPD) has become a common, safe, and effective procedure for detection of inherited diseases early in pregnancy. It is based on the analysis of fetal cell-free DNA (cffDNA) derived from the placenta, circulating in the maternal plasma. De novo mutations, although rare, cause a considerable number of dominant genetic disorders. Read More

View Article and Full-Text PDF

Selection tools for oil content and fatty acid composition in safflower ( L.).

Breed Sci 2020 Dec 28;70(5):558-566. Epub 2020 Oct 28.

Departamento de Agronomía, Centro de Recursos Naturales Renovables de la Zona Semiárida (CERZOS-CONICET, CCT, Bahía Blanca), Universidad Nacional del Sur, San Andrés 800, Bahía Blanca, 8000, Argentina.

Agricultural expansion requires the deployment of stress-tolerant crops like safflower ( L.). In safflower breeding, oil improvement in early generations requires indirect selection through simply inherited traits. Read More

View Article and Full-Text PDF
December 2020

The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS.

Neuropediatrics 2021 Feb 12. Epub 2021 Feb 12.

Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey.

Background:  Glutaric aciduria type 1(GA-1) is an inherited cerebral organic aciduria. Untreated patients with GA-1 have a risk of acute encephalopathic crises during the first 6 years of life. In so far as GA-1 desperately does not exist in Turkish newborn screening (NBS) program, most patients in our study were late-diagnosed. Read More

View Article and Full-Text PDF
February 2021

Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.

Int J Environ Res Public Health 2021 Feb 9;18(4). Epub 2021 Feb 9.

Center for Advanced Studies and Technology (CAST), University "G. d'Annunzio" of Chieti-Pescara, 66100 Chieti, Italy.

Biotinidase (BTD) deficiency is an autosomal recessive inherited neurocutaneous disorder. BTD recycles the vitamin biotin, a coenzyme essential for the function of four biotin-dependent carboxylases, including propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, pyruvate carboxylase, and acetyl-CoA carboxylase. Due to deficient activities of the carboxylases, BTD deficiency is also recognized as late-onset multiple carboxylase deficiency and is associated with secondary alterations in the metabolism of amino acids, carbohydrates, and fatty acids. Read More

View Article and Full-Text PDF
February 2021

Coinheritance of and variants in a Chinese family with juvenile-onset primary open-angle glaucoma: A case report.

World J Clin Cases 2021 Jan;9(3):697-706

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, Guangdong Province, China.

Background: Juvenile-onset primary open-angle glaucoma (JOAG), characterized by severe elevation of intraocular pressure and optic neuropathy prior to the age of 40, is a rare subtype of primary open-angle glaucoma. Several genetic mutations have been associated with JOAG.

Case Summary: The proband patient was a young male, diagnosed with primary open-angle glaucoma at the age of 27. Read More

View Article and Full-Text PDF
January 2021

Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.

J Coll Physicians Surg Pak 2021 Jan;31(1):95-97

Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology, Rawalpindi, Pakistan.

Multiple carboxylase deficiency organic Acidemia is a rare inherited metabolic disorder. It is autosomal recessive disorder of two types: Holocarboxylase deficiency and Biotinidase deficiency. It is the metabolic disorder resulting from deficiency of biotin as a co-enzyme or reduced activity of biotin-dependent carboxylases (propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase and pyruvate carboxylase). Read More

View Article and Full-Text PDF
January 2021

The role of very long chain fatty acids in yeast physiology and human diseases.

Biol Chem 2020 11 23;402(1):25-38. Epub 2020 Nov 23.

Department of Biology/Chemistry, Molecular Membrane Biology Group, University of Osnabrück, Osnabrück, Germany.

Fatty acids (FAs) are a highly diverse class of molecules that can have variable chain length, number of double bonds and hydroxylation sites. FAs with 22 or more carbon atoms are described as very long chain fatty acids (VLCFAs). VLCFAs are synthesized in the endoplasmic reticulum (ER) through a four-step elongation cycle by membrane embedded enzymes. Read More

View Article and Full-Text PDF
November 2020

Systemic Overexpression of GDF5 in Adipocytes but Not Hepatocytes Alleviates High-Fat Diet-Induced Nonalcoholic Fatty Liver in Mice.

Can J Gastroenterol Hepatol 2021 15;2021:8894685. Epub 2021 Jan 15.

Department of Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.

Objective: Our recent study demonstrated that growth differentiation factor 5 (GDF5) could promote white adipose tissue thermogenesis and alleviate high-fat diet- (HFD-) induced obesity in fatty acid-binding protein 4- (Fabp4-) GDF5 transgenic mice (TG). Here, we further investigated the effects of systemic overexpression of the GDF5 gene in adipocytes HFD-induced nonalcoholic fatty liver disease (NAFLD).

Methods: Fabp4-GDF5 TG mice were administered an HFD feeding. Read More

View Article and Full-Text PDF
January 2021

Inborn Errors of Mitochondrial Fatty Acid Oxidation: Overview from a Clinical Perspective.

Han-Wook Yoo

J Lipid Atheroscler 2021 Jan 1;10(1):1-7. Epub 2020 Dec 1.

Department of Pediatrics and Medical Genetics & Genomics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Mitochondrial fatty acid β-oxidation (mFAO), which is the major pathway for the degradation of fatty acids and is critical for maintaining energy homeostasis in the human body, consists of carnitine transport, the carnitine shuttle, and fatty acid β-oxidation. Inherited metabolic defects of mFAO result in more than 15 distinct mFAO disorders (mFAODs) with varying clinical manifestations. The common elements of the clinical presentation of mFAODs are hypoketotic hypoglycemia, (cardio)myopathy, arrhythmia, and rhabdomyolysis, indicating the importance of FAO during fasting or stressful situations. Read More

View Article and Full-Text PDF
January 2021

Abnormalities in subsets of B and T cells in Mexican patients with inborn errors of propionate metabolism: observations from a single-center case series.

Allergol Immunopathol (Madr) 2021 2;49(1):101-106. Epub 2021 Jan 2.

Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, México;

Background: Propionate inborn errors of metabolism (PIEM), including propionic (PA) and methylmalonic (MMA) acidemias, are inherited metabolic diseases characterized by toxic accumulation of propionic, 3-hydroxypropionic, methylcitric, and methylmalonic organic acids in biological fluids, causing recurrent acute metabolic acidosis events and encephalopathy, which can lead to fatal outcomes if managed inadequately. PIEM patients can develop hematological abnormalities and immunodeficiency, either as part of the initial clinical presentation or as chronic complications. The origin and characteristics of these abnormalities have been studied poorly. Read More

View Article and Full-Text PDF
January 2021

Acquired von Willebrand syndrome in association with multiple myeloma: remission after stem cell transplant.

BMJ Case Rep 2021 Jan 27;14(1). Epub 2021 Jan 27.

Divison of Hematology/Oncology, Department of Medicine, University of Florida, Gainesville, Florida, USA.

Acquired von Willebrand syndrome is a rare bleeding disorder characterised by a later age of onset without a personal or family history of bleeding diathesis. It is vital to discern acquired von Willebrand syndrome from inherited von Willebrand disease and other acquired bleeding disorders as management differs significantly. Acquired von Willebrand syndrome is usually secondary to an underlying disorder such as lymphoproliferative disorder, myeloproliferative neoplasm, solid tumour, cardiovascular disorder, autoimmune disorders or hypothyroidism. Read More

View Article and Full-Text PDF
January 2021

A Mitochondrial Polymorphism Alters Immune Cell Metabolism and Protects Mice from Skin Inflammation.

Int J Mol Sci 2021 Jan 20;22(3). Epub 2021 Jan 20.

Luebeck Institute of Experimental Dermatology, University of Luebeck, 23562 Luebeck, Germany.

Several genetic variants in the mitochondrial genome (mtDNA), including ancient polymorphisms, are associated with chronic inflammatory conditions, but investigating the functional consequences of such mtDNA polymorphisms in humans is challenging due to the influence of many other polymorphisms in both mtDNA and the nuclear genome (nDNA). Here, using the conplastic mouse strain B6-mt, we show that in mice, a maternally inherited natural mutation (m.7778G > T) in the mitochondrially encoded gene ATP synthase 8 () of complex V impacts on the cellular metabolic profile and effector functions of CD4 T cells and induces mild changes in oxidative phosphorylation (OXPHOS) complex activities. Read More

View Article and Full-Text PDF
January 2021

The Relationship between Body Composition, Fatty Acid Metabolism and Diet in Spinal Muscular Atrophy.

Brain Sci 2021 Jan 20;11(2). Epub 2021 Jan 20.

Institute of Medical Sciences, University of Aberdeen, Aberdeen AB25 2ZD, UK.

Spinal muscular atrophy (SMA) is an autosomal recessive condition that results in pathological deficiency of the survival motor neuron (SMN) protein. SMA most frequently presents itself within the first few months of life and is characterized by progressive muscle weakness. As a neuromuscular condition, it prominently affects spinal cord motor neurons and the skeletal muscle they innervate. Read More

View Article and Full-Text PDF
January 2021