Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations.

Date publication

avril 2020

Journal

Annales d'endocrinologie

Auteurs

Membres identifiés du Cancéropôle Est :
Pr LEBRE Anne-Sophie

Tous les auteurs :
Decoux-Poullot AG, Bannwarth S, Procaccio V, Lebre AS, Jardel C, Vialettes B, Paquis-Flucklinger V, Chevalier N

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/32409007

Résumé

While the most frequent mutation responsible for mitochondrial diabetes is the point mutation m.3243 A>G of mitochondrial DNA (mtDNA), few data are available about the role of rare mtDNA mutations in the pathophysiology of diabetes. The main objective of our study was to describe the phenotypic characteristics of patients suffering from diabetes linked to rare mtDNA mutations.

Mots clés

ADN mitochondrial, Diabetes, Diabète, Diabète mitochondrial, Maladie mitochondriale, Mitochondrial DNA, Mitochondrial diabetes, Mitochondrial disease, Mutation rare, Rare mutation

Référence

Ann. Endocrinol. (Paris). 2020 Apr 28;: