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Maternally inherited diabetes and deafness: a multicenter study
P J Guillausseau1, P Massin, D Dubois-LaForgue
1Department of Medicine B, Lariboisière Hospital, 2 rue Ambroise Paré, F75010 Paris, University Paris 7-Denis Diderot, France. pierre-jean.guillausseau@lrb.ap-hop-paris.fr
Annals of Internal Medicine
|May 1, 2001
Summary
Maternally inherited diabetes and deafness (MIDD) presents uniquely in patients with type 2 diabetes, often in younger individuals with normal BMI. This mitochondrial DNA mutation causes specific complications, including hearing loss and kidney disease.
Area of Science:
- Genetics
- Endocrinology
- Mitochondrial Diseases
Background:
- Maternally inherited diabetes and deafness (MIDD) affects 0.5%–2.8% of type 2 diabetes mellitus patients.
- MIDD is caused by a point mutation at position 3243 of mitochondrial (mt) DNA.
- The clinical presentation of MIDD is not fully understood.
Purpose of the Study:
- To investigate the clinical characteristics and diabetes complications in MIDD patients.
- To identify clinical markers for selecting diabetic patients for mtDNA mutation screening.
Main Methods:
- A multicenter prospective descriptive study was conducted.
- Data were collected from 54 patients with type 2 diabetes and the mtDNA 3243 mutation across 16 French departments.
- Key measurements included diabetes characteristics, metabolic control (HbA1c), complications, and organ involvement.
Main Results:
- MIDD patients were typically young at diabetes onset with normal or low BMI, and never obese.
- Nearly all patients experienced neurosensory hearing loss; 86% showed macular pattern dystrophy.
- Other complications included myopathy (43%), cardiomyopathy (15%), and renal disease (28%), suggesting specific mitochondrial involvement.
Conclusions:
- MIDD exhibits a distinct clinical profile.
- This profile can aid in identifying diabetic individuals who may benefit from mitochondrial DNA testing.
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