Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - year:2024 |
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| Enthalten in: |
Diabetes & metabolism journal - (2024) vom: 01. Feb. |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Rho, Eun Hoo [VerfasserIn] |
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| Links: |
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| Themen: |
Diabetes mellitus |
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| Anmerkungen: |
Date Revised 04.02.2024 published: Print-Electronic Citation Status Publisher |
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| doi: |
10.4093/dmj.2023.0078 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM368005569 |
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| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Diabetes mellitus | |
| 650 | 4 | |a Genetic diseases, inborn | |
| 650 | 4 | |a Heteroplasmy | |
| 650 | 4 | |a Maternal inheritance | |
| 650 | 4 | |a Mitochondrial diseases | |
| 700 | 1 | |a Baek, Sang Ik |e verfasserin |4 aut | |
| 700 | 1 | |a Lee, Heerah |e verfasserin |4 aut | |
| 700 | 1 | |a Seong, Moon-Woo |e verfasserin |4 aut | |
| 700 | 1 | |a Chae, Jong-Hee |e verfasserin |4 aut | |
| 700 | 1 | |a Park, Kyong Soo |e verfasserin |4 aut | |
| 700 | 1 | |a Kwak, Soo Heon |e verfasserin |4 aut | |
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