ECE2018 Poster Presentations: Interdisciplinary Endocrinology Diabetes (to include epidemiology, pathophysiology) (5 abstracts)
Coexistence of mitochondrial diabetes and primary amyloidosis
Wajdi Safi 1 , Mouna Tabbebi 2 , Faten Hadj Kacem 1 , Dorra Ghorbel 1 , Nabila Rekik 1 , Mouna Mnif Feki 1 , Fatma Mnif 1 , Faiza Fakhfakh 2 & Mohamed Abid 1
1Endocrinology Department, Hedi Chaker Hospital, Sfax, Tunisia; 2Laboratory of Molecular and Functional Genetics, Faculty of Sciences, Sfax, Tunisia.
Introduction: Primary amyloidosis is a multi-systemic disease difficult to identify given the diversity of the disorders that it can cause especially at an early stage of the disease. This makes its diagnosis difficult in case of association with a pathology that can be intricate with its clinical expression. In this context we report the first case in the literature associating mitochondrial diabetes (DM) with a primary amyloidosis
Case: A 32 years old girl, with family history of diabetes and maternal transmission, refer to our service for diabetes of primo discovery revealed by a frank hyperglycaemia without ketosis. The negativity of anti-beta cell antibodies and the presence of extra-pancreatic manifestations at type of bilateral perception deafness, sensitivomotor neuropathy, glomerular nephropathy and the presence of jagged red fibers characteristic of mitochondrial cytopathy on muscle biopsy, led us to retain the diagnosis of a DM. The biomolecular study then confirmed the mutation most frequently described in the literature: m.3243A> G (tRNA Leu) in the mitochondrial genome. Moreover, in front of the echocardiography appearance of concentric hypertrophic cardiomyopathy, with hyperechoic and brilliant granite appearance, unusual in DM and suggestive of overload cardiomyopathy, a biopsy of the salivary glands was performed and confirming the presence of a primary amyloidosis.
Discussion and conclusion: The association of DM with amyloidosis has never been described in the literature. Such an association may be a prototype of interrelation between the nuclear genome involving genes having a key role in the metabolism of amyloid deposits and the mitochondrial genome thus inducing a vicious circle that can sustain a process of cellular apoptosis induced by an alteration of the dynamism of the intra-mitochondrial respiratory chain already reported in vitro. Certainly the progress of molecular biology and a better understanding of signaling signals of intracellular proteins allowing clarifying the etiopathogenic link of such an association.
Volume 56
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more