Diabetes Metab J.  2024 May;48(3):482-486. 10.4093/dmj.2023.0078.

Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea

• Rho EH
• Baek SI
• Lee H
• Seong MW
• Chae JH
• Park KS
• Kwak SH

• KMID: 2555779
• DOI: http://doi.org/10.4093/dmj.2023.0078

Abstract

Maternally 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.

Keyword

Diabetes mellitus; Genetic diseases, inborn; Heteroplasmy; Maternal inheritance; Mitochondrial diseases

Figure

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  Fig. 1. Correlation between heteroplasmy and age at diabetes mellitus (DM) diagnosis.

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