Arrêt de service programmé du vendredi 10 juin 16h jusqu’au lundi 13 juin 9h. Pour en savoir plus
Accéder directement au contenu Accéder directement à la navigation
Article dans une revue

Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis

Abstract :

AimsTo report on a family with five members who carry the A3243G mutation in mitochondrial tRNA for leucine 1 (MTTL1) and present with diabetes, chronic intestinal pseudo-obstruction (CIPO) and recurrent pancreatitis, and to screen for this mutation in a cohort of 36 unrelated patients with recurrent pancreatitis. Methods The mutation was quantified in several tissue samples from patients. Respiratory chain activity was studied in muscle biopsies and fibroblast cultures. In addition, the thymidine phosphorylase gene (TP) involved in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and three genes involved in chronic pancreatitis – PRSS1, SPINK1 and CFTR – were sequenced in affected patients. Finally, the MTTL1 gene was examined in 36 unrelated patients who had recurrent pancreatitis, but no mutations in the PRSS1 and SPINK1 genes. Results Heteroplasmy for the mtDNA A3243G mutation was found in all tissue samples from these patients, but no mutations were found in the genes coding for thymidine phosphorylase, PRSS1, SPINK1 and CFTR. Also, none of the 36 unrelated patients with recurrent pancreatitis were carrying any MTTL1 mutations. Conclusion The mtDNA A3243G mutation associated with the gastrointestinal manifestations observed in the affected family should be regarded as a possible cause of CIPO and unexplained recurrent pancreatitis. However, the mutation is probably only weakly involved in cases of isolated recurrent pancreatitis.

Type de document :
Article dans une revue
Liste complète des métadonnées

https://hal.univ-angers.fr/hal-03403264
Contributeur : Okina Univ Angers Connectez-vous pour contacter le contributeur
Soumis le : mardi 26 octobre 2021 - 10:02:36
Dernière modification le : mercredi 27 octobre 2021 - 04:04:36

Lien texte intégral

Identifiants

Collections

Citation

Christophe Verny, Patrizia Amati-Bonneau, Franck Letournel, Bruno Person, Nina Dib, et al.. Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis. Diabetes and Metabolism, Elsevier Masson, 2008, 34 (6), pp.620 - 626. ⟨10.1016/j.diabet.2008.06.001⟩. ⟨hal-03403264⟩

Partager

Métriques

Consultations de la notice

6