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

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اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • المصدر:
      Publisher: Korean Diabetes Association Country of Publication: Korea (South) NLM ID: 101556588 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2233-6087 (Electronic) Linking ISSN: 22336079 NLM ISO Abbreviation: Diabetes Metab J Subsets: MEDLINE
    • بيانات النشر:
      Original Publication: Seoul : Korean Diabetes Association
    • الموضوع:
      DNA, Mitochondrial*/genetics ; Mitochondrial Diseases*/genetics ; Mitochondrial Diseases*/diagnosis ; Mitochondrial Diseases*/epidemiology ; Deafness*/genetics ; Mutation*; Humans ; Female ; Male ; Retrospective Studies ; Adult ; Republic of Korea/epidemiology ; Middle Aged ; Young Adult ; Diabetes Mellitus/genetics ; Diabetes Mellitus/epidemiology ; Adolescent ; Heteroplasmy ; Hearing Loss/genetics ; Diabetes Mellitus, Type 2
    • نبذة مختصرة :
      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.
    • Comments:
      Comment in: Diabetes Metab J. 2024 Jul;48(4):818-819. doi: 10.4093/dmj.2024.0154. (PMID: 39091009)
    • References:
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    • Grant Information:
      Korea Health Industry Development Institute; 2021F-6 Korean Diabetes Association; HI15C3131 Ministry of Health and Welfare; U01 HG011723 United States HG NHGRI NIH HHS; 0320220080 Seoul National University Hospital; U01HG011723 United States HG NHGRI NIH HHS
    • Contributed Indexing:
      Keywords: Diabetes mellitus; Genetic diseases, inborn; Heteroplasmy; Maternal inheritance; Mitochondrial diseases
    • الرقم المعرف:
      0 (DNA, Mitochondrial)
    • الموضوع:
      Noninsulin-dependent diabetes mellitus with deafness
    • الموضوع:
      Date Created: 20240204 Date Completed: 20240527 Latest Revision: 20240802
    • الموضوع:
      20240802
    • الرقم المعرف:
      PMC11140398
    • الرقم المعرف:
      10.4093/dmj.2023.0078
    • الرقم المعرف:
      38311059