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

Author: Eun Hoo RHO ¹ ; Sang Ik BAEK ; Heerah LEE ; Moon-Woo SEONG ; Jong-Hee CHAE ; Kyong Soo PARK ; Soo Heon KWAK
Author Information

1. Division of Endocrinology and Metabolism, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea
Publication Type:Brief Report
From:Diabetes & Metabolism Journal 2024;48(3):482-486
CountryRepublic of Korea
Language:EN
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.