Maternally inherited diabetes and deafness: a multicenter study

Ann Intern Med. 2001 May 1;134(9 Pt 1):721-8. doi: 10.7326/0003-4819-134-9_part_1-200105010-00008.


Background: Maternally inherited diabetes and deafness (MIDD), which is seen in 0.5% to 2.8% of patients with type 2 diabetes mellitus, is related to a point mutation at position 3243 of mitochondrial (mt) DNA. Its clinical description is incomplete.

Objective: To study the clinical presentation and complications of diabetes in patients with MIDD and to identify clinical characteristics that may help select diabetic patients for mtDNA mutation screening.

Design: Multicenter prospective descriptive study.

Setting: 16 French departments of internal medicine, diabetes and metabolic diseases, or both.

Patients: 54 patients with type 2 diabetes mellitus and the mtDNA 3243 mutation.

Measurements: Characteristics of diabetes, metabolic control (glycosylated hemoglobin level), complications of diabetes, and involvement of other organs.

Results: On average, patients with MIDD were young at diabetes onset and presented with a normal or low body mass index. None were obese. Seventy-three percent of probands had a maternal family history of diabetes. Diabetes was non-insulin-dependent at onset in 87% of patients; however, 46% of patients had non-insulin-dependent disease at onset but progressed to insulin therapy after a mean duration of approximately 10 years. Neurosensory hearing loss was present in almost all patients. Eighty-six percent of patients who received an ophthalmologic examination had macular pattern dystrophy (a specific retinal lesion). Forty-three percent of patients had myopathy, 15% had cardiomyopathy, and 18% (9 of 51) had neuropsychiatric symptoms. Although the prevalence of diabetic retinopathy was 8% among patients who received an ophthalmologic examination, lower than expected after a mean 12-year duration of diabetes, prevalence of kidney disease was 28%. This suggests that a specific renal involvement was the result of mitochondrial disease.

Conclusions: Maternally inherited diabetes and deafness has a specific clinical profile that may help identify diabetic patients for mtDNA testing.

Publication types

  • Multicenter Study

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Analysis of Variance
  • Body Mass Index
  • Child
  • DNA, Mitochondrial / genetics
  • Deafness / complications
  • Deafness / genetics*
  • Diabetes Mellitus, Type 1 / complications
  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 1 / pathology
  • Diabetes Mellitus, Type 2 / complications
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetes Mellitus, Type 2 / pathology
  • Diabetic Angiopathies / epidemiology
  • Diabetic Angiopathies / pathology
  • Female
  • Humans
  • Macula Lutea / pathology
  • Male
  • Middle Aged
  • Neuromuscular Diseases / complications
  • Point Mutation
  • Prospective Studies
  • Statistics, Nonparametric
  • Surveys and Questionnaires


  • DNA, Mitochondrial