Abstract |
Maternally inherited diabetes and deafness (MIDD) is a new sub-type of diabetes and results from an A to G substitution at position 3243 of the mitochondrial tRNA(leu(UUR)) gene. This mutation is also associated with a neurological syndrome (MELAS). Recent studies have screened carefully selected diabetic populations and have reported MIDD prevalence rates ranging from undetectable to 60%. The aim of this work was to determine the importance of this sub-type in clinical practice by screening a routine hospital diabetic population. A total of 1440 patients ( IDDM and NIDDM) of North European extraction attending two hospital diabetes services were initially screened by questionnaire. This identified 445 patients with one or more features of MIDD and/or MELAS and these subjects were then genotyped. Two patients were identified with the mutation giving a prevalence rate of 0.13% for the whole study population, and 0.45% for the sample with phenotypic features of MIDD. In conclusion, therefore, the 3243 mutation is associated with the phenotypically distinct MIDD sub-type, but this is rare in the routine hospital diabetic population.
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Authors | J E Newkirk, R W Taylor, N Howell, L A Bindoff, P F Chinnery, K G Alberti, D M Turnbull, M Walker |
Journal | Diabetic medicine : a journal of the British Diabetic Association
(Diabet Med)
Vol. 14
Issue 6
Pg. 457-60
(Jun 1997)
ISSN: 0742-3071 [Print] England |
PMID | 9212310
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA, Mitochondrial
- RNA, Mitochondrial
- RNA, Transfer, Leu
- RNA
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Topics |
- Adult
- DNA, Mitochondrial
(genetics)
- Deafness
(genetics)
- Diabetes Mellitus
(epidemiology, genetics)
- Europe
(epidemiology)
- Female
- Genotype
- Humans
- Male
- Middle Aged
- Mothers
- Pedigree
- Point Mutation
(genetics)
- Prevalence
- RNA
(genetics)
- RNA, Mitochondrial
- RNA, Transfer, Leu
(genetics)
- Surveys and Questionnaires
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