Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics

• Published in: Cells (Basel, Switzerland) Vol. 11; no. 17; p. 2635
• Main Authors: D'Annibale, Olivia M, Phua, Yu Leng, Van't Land, Clinton, Karunanidhi, Anuradha, Dorenbaum, Alejandro, Mohsen, Al-Walid, Vockley, Jerry
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 24.08.2022; MDPI
• Subjects: ACADs; Acyl-CoA dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain - genetics; acyl-CoA dehydrogenases; Adenosine Triphosphate - metabolism; Adolescent; Adult; Agonists; Agonists (Biochemistry); Bioenergetics; Cardiomyopathy; Cell lines; Child; Children; Cholesterol; Clinical trials; Congenital Bone Marrow Failure Syndromes; Dehydrogenases; Diet; Energy Metabolism; Enzymatic activity; fatty acid oxidation; Fatty acids; Fibroblasts; Fibroblasts - metabolism; Gene expression; Genotypes; Glucose; Health aspects; Humans; Hypoglycemia; Insulin; Kidneys; Life sciences; Lipid Metabolism, Inborn Errors; Lipids; Medical screening; Metabolism; Missense mutation; Mitochondrial Diseases; Muscular Diseases; Mutation; Myopathy; Obesity; Oxidation; Oxidative phosphorylation; Oxidative stress; Oxidoreductases; Oxygen consumption; Patients; Phosphorylation; PPAR delta - metabolism; PPARs; Proteins; Regulation; REN001; Rhabdomyolysis; Statistical analysis; Triglycerides; VLCAD deficiency; United States; United States > US; REN001; acyl-CoA dehydrogenases; fatty acid oxidation; cellular bioenergetics; ACADs; PPARs; VLCAD deficiency

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive disease that prevents the body from utilizing long-chain fatty acids for energy, most needed during stress and fasting. Symptoms can appear from infancy through childhood and adolescence or early adulthood, and inclu...