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Haydar S., Lautier C., Grigorescu Florin. (2018). Branched chain amino acids at the edge between Mendelian and complex disorders. Acta Endocrinologica-Bucharest, 14 (2), 238-247. ISSN 1841-0987

Lien direct chez l'éditeur doi:10.4183/aeb.2018.238

Titre
Branched chain amino acids at the edge between Mendelian and complex disorders
Année de publication2018
Type de documentArticle référencé dans le Web of Science WOS:000441340900014
AuteursHaydar S., Lautier C., Grigorescu Florin.
SourceActa Endocrinologica-Bucharest, 2018, 14 (2), p. 238-247. ISSN 1841-0987
RésuméBranched chained amino acids (BCAA) are essential components of the human diet and important nutrient signals, which regain particular interest in recent years with the avenue of metabolomics studies suggesting their potential role as biomarkers. There is now compelling evidence for predictive role of BCAA in progression of diabetes, but causality relationship is still debated concerning insulin resistance and genetic versus non genetic pathogenesis. Mendelian randomization studies in large cohorts of diabetes indicated pathogenic role of PPM1K (protein phosphatase Mg2+/Mn2+ dependent 1K) on Chr 4q22.1 gene, encoding for a phosphatase that activate BCKDH (branched chain keto acid dehydrogenase) complex. Recent studies indicated that insulin rapidly and dose-dependently regulates gene expression of the same complex, but the relationship with systemic insulin resistance and glucose levels is complex. Rare genetic syndromes due to Mendelian mutations in key genes in BCAA catabolism may be good models to understand potential role of gene of BCAA catabolism. However, in studying complex disorders geneticists are faced to complete new aspects of metabolic regulation complicating understanding genetics of obesity, diabetes or metabolic syndrome. A review of genetic syndromes of BCAA metabolism suggests that insulin resistance is not present, except rare cases of methylmalonic aciduria due to MUT (methylmalonyl-coA mutase) gene on Chr 6p12.3. Another aspect that complicates understanding is the new role of central nervous system (CNS) in insulin resistance. For long time the hypothalamic hunger/satiety neuronal system was considered a key site of nutrient regulation. Genes may also affect the brain rewarding system (BRS) that would regulate food intake by modulating the motivation to obtain food and considering hedonic properties. Nutrigenomic and nutrigenetic investigations taking into account concurrently BCAA intake, metabolic regulation and gene variation have large perspectives to merge genetic and nutritional understanding in complex disorders.
Plan de classementSanté : généralités [050] ; Nutrition, alimentation [054] ; Sciences fondamentales / Techniques d'analyse et de recherche [020]
LocalisationFonds IRD
Identifiant IRDPAR00017885
Lien permanenthttp://www.documentation.ird.fr/hor/PAR00017885

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