ECE2021 Audio Eposter Presentations Diabetes, Obesity, Metabolism and Nutrition (223 abstracts)
Syndromic mitochondrial diabetes: About three Tunisian families
Wajdi Safi 1 , Mouna Tabbebi 2 , Faten Hadj Kacem 1 , Hana Charfi 1 , Chiraz Zayani2 , Dhouha Ben Salah 1 , Mouna Mnif Feki 1 , Faiza Fakhfakh 2 & Mohamed Abid 1
1Hedi Chaker hospital, Sfax; TUNISIA, Sfax, Tunisia, Department of Endocrinology, Sfax, Tunisia; 2Faculty of Sciences of Sfax, TUNISIA, Laboratory of Molecular and Functional Genetics, Sfax, Tunisia
Introduction
Mitochondrial diabetes (DM) is characterized by a broad spectrum of phenotypic and genotypic involvement. Among 86 patients with DM, we chose to study the peculiarities of syndromic DM diagnosed in three families in order to be able to establish a correlation between this diversity of phenotypic expression and the biomolecular substratum of the mitochondrial genome.
Results
These are four patients (index case) belonging to 3 families with an average age of onset at 22 years (3–32), sex ratio 3 F/1H. Maternal transmission of diabetes in half of cases with a phenotype reminiscent of type 1 diabetes (MIDD1) in all patients. The sequencing of the mitochondrial genome using the candidate gene and mitochondrial genome approach approach allowed us to highlight the mitochondrial biomolecular peculiarities within our population, in fact the two patients presenting a phenotype suggestive of Wolfram syndrome presenting a central diabetes insipidus. and bilateral optic atrophy had a mutation in the gene encoding ND1 (mitochondrial complex I enzyme). Concerning the patient presenting phenotypic traits suggestive of a MELAS syndrome associating pyramidal syndrome, epilepsy and lactic acidosis, an m.1640A > G mutation of the tRNA gene Val in the homoplasmic state was found underlining the genotypic heterogeneity of this syndrome. Finally, we report for the first time the coexistence of a primary amyloidosis and a MIDD1 by mutation m3243A > G (tRNA Leu) in the fourth patient who had presented extra pancreatic manifestations common to the type hypertrophic cardiomyopathy, glomerular nephropathy and neuropathy. peripheral.
Conclusion
Certainly, progress in molecular biology and a better understanding of the signaling lines of intracellular proteins will make it possible to clarify the etiopathogenic link and to establish a correlation between the clinical phenotype and the spectrum of mitochondrial genetic damage.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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