Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea.
Diabetes Metab J
; 48(3): 482-486, 2024 May.
Article
em En
| MEDLINE
| ID: mdl-38311059
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.
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Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
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Doenças Mitocondriais
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Surdez
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Mutação
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article