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Diabetes Mellitus in Mitochondrial Disease

Lookup NU author(s): Dr Yi NgORCiD, Professor Robert Taylor, Dr Andrew Schaefer


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© 2017 S. Karger AG, Basel. Mitochondrial diseases arise as a consequence of respiratory chain dysfunction caused by mutations in the mitochondrial genome (mtDNA) or nuclear-encoded mitochondrial genes. Multisystem involvement is a hallmark of many subtypes of mitochondrial disease in which energy-dependent organs including the brain, skeletal muscles, and heart are commonly affected. The most common mitochondrial genotype that causes diabetes mellitus is a single nucleotide substitution (m.3243A>G) in the mitochondrial tRNALeu(UUR) gene which is linked to a distinctive clinical phenotype-maternally inherited diabetes and deafness. Diabetes mellitus often arises insidiously as part of the clinical presentation associated with mitochondrial disease; however, there are unique clinical features and associated complications compared to other diabetes subtypes. Overall, the treatment of patients with mitochondrial diabetes is similar to those with other causes of diabetes but with additional emphasis on the screening and subsequent management of additional multiorgan involvement.

Publication metadata

Author(s): Ng YS, Taylor RW, Schaefer AM

Publication type: Book Chapter

Publication status: Published

Book Title: Frontiers in Diabetes

Year: 2017

Volume: 25

Pages: 55-68

Print publication date: 21/03/2017

Acceptance date: 02/04/2016

Publisher: S. Karger AG


DOI: 10.1159/000454701