ECE2018 Poster Presentations: Diabetes, Obesity and Metabolism Diabetes (to include epidemiology, pathophysiology) (73 abstracts)
Mitochondrial diabetes in 40 patients belonging to 30 Tunisian families: phenotypic and genotypic heterogeneity
Wajdi Safi 1 , Mouna Tabbabi 2 , Faten Hadj Kacem 1 , Imene Gargouri 1 , Mouna Elleuch 1 , Salwa Sassi 1 , Mouna Mnif Feki 1 , Faiza Fakhfakh 2 & Mohamed Abid 1
1Endocrinology Department, Hedi Chaker Hospital, Sfax, Tunisia; 2Laboratory of Molecular and Functional Genetics, Faculty of Sciences of Sfax, Sfax, Tunisia.
Introduction: Mitochondrial diabetes (MD) is characterized by a broad spectrum of phenotypic and genotypic involvement. Through a cohort study of 40 patients with DM, we tried to correlate this diversity of phenotypic expression with the biomolecular substratum of the mitochondrial genome in the Tunisian population.
Results: Epidemiologically and anthropometrically, our series fits the literature data with age at 31.6 years (5–52), female predominance (82.5%) and normal BMI in 60% of cases. Diabetes was MIDD2 in ¾ cases, with a significantly higher incidence of diabetic retinopathy 42.5% versus 8-13% in the literature. Regarding the extra-pancreatic manifestations, reticular macular dystrophy, very characteristic of DM, was absent in all our patients; as well as retinitis pigmentosa (15% of cases versus 57–86%). Perceptive deafness, classically almost constant, was only present in half of the cases. A dilated cardiomyopathy was found in only 1 case versus 18 to 34% in the literature. The biomolecular study of the mitochondrial genome revealed the absence of the most frequently described mutation associated with DM: m.3243A> G (tRNA Leu). This led us to look for the mutation m.14709T> C (tRNA Glu), found in 6 patients belonging to three different families, however the study of the heteroplasmic rate in 2 families did not reveal a correlation with the spectrum of phenotypic involvement. In addition, sequencing of the entire mitochondrial genome has revealed other polymorphisms not described in the literature and having a key role in the functioning of the mitochondrial respiratory chain.
Conclusion: Our cohort is characterized by a phenotypic and genotypic heterogeneity. It seems that the m.3243A> G mutation is not specific to our Tunisian population and that the m.14709T> C mutation was more frequent. A larger scale study is needed to determine the impact of heteroplasmic rate on the spectrum of phenotypic involvement.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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