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- Title
Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea.
- Authors
Eun Hoo Rho; Sang Ik Baek; Heerah Lee; Moon-Woo Seong; Jong-Hee Chae; Kyong Soo Park; Soo Heon Kwak
- 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.
- Subjects
PEOPLE with diabetes; MITOCHONDRIAL DNA; GENETIC testing; GENETIC mutation; MITOCHONDRIAL pathology; MELAS syndrome; LEBER'S hereditary optic atrophy
- Publication
Diabetes & Metabolism Journal, 2024, Vol 48, Issue 3, p482
- ISSN
2233-6079
- Publication type
Article
- DOI
10.4093/dmj.2023.0078