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Brief Report
- Genetics
- Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea
- Eun Hoo Rho, Sang Ik Baek, Heerah Lee, Moon-Woo Seong, Jong-Hee Chae, Kyong Soo Park, Soo Heon Kwak
- Diabetes Metab J. 2024;48(3):482-486. Published online February 1, 2024
- DOI: https://doi.org/10.4093/dmj.2023.0078
- 10,091 View
- 351 Download
- 4 Web of Science
- 7 Crossref
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Abstract
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Supplementary Material
PubReader 
ePub - 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.
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Citations
Citations to this article as recorded by
- Approach to the Patient: Mitochondrial Diabetes: Contemporary Cases and a Precision Medicine Approach
Kaylee R Oppenheimer, Nava T Himelhoch, Michael E McCullough, Tiana L Bowden, Balamurugan Kandasamy, Lisa R Letourneau-Freiberg, Rochelle N Naylor, Siri Atma W Greeley, Louis H Philipson
The Journal of Clinical Endocrinology & Metabolism.2026; 111(4): 1175. CrossRef - Before diagnosing immunological cerebellitis in an m.3243A>G carrier, a cerebellar stroke-like lesion should be ruled out
Josef Finsterer
Rinsho Shinkeigaku.2026; 66(3): 190. CrossRef - Glycemic and Renal Effects of SGLT2 Inhibitors in Monogenic Diabetes: A Real‐World National Study
Estelle Audrain, Pierre Bel Lassen, Christine Bellanné‐Chantelot, Marie Christine Vantyghem, Hippolyte Dupuis, Tiphaine Vidal‐Trecan, Nicolas Chevalier, Danièle Dubois‐Laforgue, Sophie Lamothe, Camille Vatier, Orianne Villard, René Valéro, Claire Briet, C
Diabetes, Obesity and Metabolism.2026;[Epub] CrossRef - Monogenic diabetes: the role of mitochondrial dysfunction and endoplasmic reticulum stress
Elif Ozsu
Frontiers in Clinical Diabetes and Healthcare.2025;[Epub] CrossRef - Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea (Diabetes Metab J 2024;48:482-6)
Eun Hoo Rho, Soo Heon Kwak
Diabetes & Metabolism Journal.2024; 48(4): 818. CrossRef - MIDD Patients Should Not Be Confused with MELAS Patients, Even Though Both Carry the m.3243A>G Variant
Josef Finsterer, Sounira Mehri
Diabetes & Metabolism Journal.2024; 48(4): 816. CrossRef - Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome
Ji-Hoon Na, Young-Mock Lee
Biomolecules.2024; 14(12): 1524. CrossRef
- Approach to the Patient: Mitochondrial Diabetes: Contemporary Cases and a Precision Medicine Approach
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