Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities

Editor(s): Barbetti, F. (Rome)
Ghizzoni, L. (Turin)
Guaraldi, F. (Turin)
Barbetti F, Ghizzoni L, Guaraldi F (eds): Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities. Front Diabetes. Basel, Karger, 2017, vol 25, pp 182-187
(DOI:10.1159/000454746)

Diabetes in Myotonic Dystrophy

Dahlqvist J.R. · Vissing J.

Author affiliations

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Article / Publication Details

First-Page Preview
Abstract of Other Genetic Conditions with Increased Susceptibility to Diabetes

Published online: March 21, 2017
Cover Date: 2017

Number of Print Pages: 6
Number of Figures: 1
Number of Tables: 0

ISBN: 978-3-318-06024-9 (Print)
eISBN: 978-3-318-06025-6 (Online)

Abstract

The myotonic dystrophies are the most common muscular dystrophies worldwide. There are 2 major types of the myotonic dystrophies: type 1 (DM1) and type 2 (DM2). Both DM1 and DM2 are microsatellite expansion disorders in which a sequence of nucleotides expands to a pathogenic range. The transcripts containing repeat expansions interfere with the normal RNA metabolism resulting in disrupted regulation of alternative splicing. DM1 and DM2 are multisystem diseases, affecting skeletal muscle, the heart, the central nervous system, the eyes, and the endocrine system. Individuals with DM1 and DM2 have peripheral insulin resistance and increased proinsulin levels that can lead to glucose intolerance, hyperinsulinemia, and an increased risk of developing type 2 diabetes. In studies on individuals with DM1, impaired glucose tolerance was found in 15% compared to 10% in the background population and diabetes in 6-9 versus 3-4% in the general population.

© 2017 S. Karger AG, Basel


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Article / Publication Details

First-Page Preview
Abstract of Other Genetic Conditions with Increased Susceptibility to Diabetes

Published online: March 21, 2017
Cover Date: 2017

Number of Print Pages: 6
Number of Figures: 1
Number of Tables: 0

ISBN: 978-3-318-06024-9 (Print)
eISBN: 978-3-318-06025-6 (Online)

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