Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNALeu A to G mutation11The authors have no proprietary interest in the development or marketing of any device or medications mentioned in the article or any competing device.

Ophthalmology ◽  
1999 ◽  
Vol 106 (6) ◽  
pp. 1101-1108 ◽  
Author(s):  
Paul R Smith ◽  
Stephen C Bain ◽  
Peter A Good ◽  
Andrew T Hattersley ◽  
Anthony H Barnett ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Retinal Dystrophy ◽  
Inherited Diabetes ◽  
Pigmentary Retinal Dystrophy

scholarly journals 4121 Macular retinal dystrophy, deafness and diabetes mellitus, associated with a mutation of mitochondrial DNA (tRNA leu(3243)

1995 ◽  
Vol 35 ◽  
pp. S153
Author(s):  
P. Massin ◽  
P.J. Guillausseau ◽  
B. Vialettes ◽  
H. Gin ◽  
A. Grimaldi ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Mitochondrial Dna ◽  
Retinal Dystrophy

scholarly journals Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness

2008 ◽  
Vol 52 (8) ◽  
pp. 1228-1235 ◽  
Author(s):  
Daisy Crispim ◽  
Aline A. F. Estivalet ◽  
Israel Roisenberg ◽  
Jorge L. Gross ◽  
Luis H. Canani
Keyword(s):  
Type 2 Diabetes ◽  
Mitochondrial Dna ◽  
Classical Type ◽  
Diabetic Patients ◽  
Type 2 Diabetic Patients ◽  
Diabetes Group ◽  
Mtdna Mutations ◽  
Type 2 Diabetic ◽  
Inherited Diabetes

The aim of the present study is to investigate the prevalence of ten described mitochondrial DNA (mtDNA) mutations in patients with type 2 diabetes, and search for new mutations in four mtDNA genes in a subgroup of patients with characteristics of maternally inherited diabetes and deafness (MIDD). These mutations were investigated in 407 type 2 diabetic patients without characteristics of mitochondrial diabetes ("classical" type 2 diabetes group) and in 38 type 2 diabetic patients with characteristics suggestive of MIDD. Through sequencing of four mtDNA genes in MIDD patients, we selected five others potentially pathogenic mutations that were also screened in the remaining patients. Overall, the frequency of the fifteen analyzed mutations was 36.84% in the MIDD group and 2.45% in the "classical" type 2 diabetes group (p < 0.001). In conclusion, our study reinforces the importance of mtDNA mutations in the pathogenesis of MIDD.

scholarly journals A Novel Unstable Mutation in Mitochondrial DNA Responsible for Maternally Inherited Diabetes and Deafness

Diabetes Care ◽  
2011 ◽  
Vol 34 (12) ◽  
pp. 2591-2593 ◽  
Author(s):  
S. Bannwarth ◽  
M. Abbassi ◽  
R. Valero ◽  
K. Fragaki ◽  
N. Dubois ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Unstable Mutation ◽  
Inherited Diabetes
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