scholarly journals Heteroplasmic Mitochondrial DNA 3310 Mutation in NADH Dehydrogenase Subunit 1 Associated With Type 2 Diabetes, Hypertrophic Cardiomyopathy, and Mental Retardation in a Single Patient

Diabetes Care ◽  
2003 ◽  
Vol 26 (3) ◽  
pp. 952-953 ◽  
Author(s):  
Y. Hattori ◽  
K. Nakajima ◽  
T. Eizawa ◽  
T. Ehara ◽  
M. Koyama ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Mitochondrial Dna ◽  
Mental Retardation ◽  
Hypertrophic Cardiomyopathy ◽  
Nadh Dehydrogenase ◽  
Single Patient ◽  
Nadh Dehydrogenase Subunit

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.

A pilot study of mitochondrial DNA point mutation A3243G in a sample of Croatian patients having type 2 diabetes mellitus associated with maternal inheritance

2004 ◽  
Vol 41 (4) ◽  
pp. 179-184 ◽  
Author(s):  
I. Martin-Kleiner ◽  
E. Pape-Medvidović ◽  
I. Pavlić-Renar ◽  
Ž. Metelko ◽  
R. Kušec ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Mitochondrial Dna ◽  
Pilot Study ◽  
Point Mutation ◽  
Maternal Inheritance
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