Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A & gt;G Mutation in Korea

Diabetes Metab J. 2024 Feb 1. doi: 10.4093/dmj.2023.0078. Online ahead of print.ABSTRACTMaternally inherited diabetes and deafness (MIDD) is a rare mitochondrial disorder primarily resulting from m.3243A>G mutation. The clinical characteristics of MIDD exhibit significant heterogeneity. Our study aims to delineate these characteristics and determine the potential correlation with m.3243A>G heteroplasmy levels. This retrospective, descriptive study encompassed patients with confirmed m.3243A>G mutation and diabetes mellitus at Seoul National University Hospital. Our cohort comprises 40 patients with MIDD, with a mean age at study enrollment of 33.3±12.9 years and an average % of heteroplasmy of 30.0%± 14.6% in the peripheral blood. The most prevalent comorbidity was hearing loss (90%), followed by albuminuria (61%), seizure (38%), and stroke (33%). We observed a significant negative correlation between % of heteroplasmy and age at diabetes diagnosis. These clinical features can aid in the suspicion of MIDD and further consideration of genetic testing for m.3243A>G mutation.PMID:38311059 | DOI:10.4093/dmj.2023.0078
Source: Diabetes and Metabolism Journal - Category: Endocrinology Authors: Source Type: research