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

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 The effects of coenzyme Q 10 treatment on maternally inherited diabetes mellitus and deafness, and mitochondrial DNA 3243 (A to G) mutation

Diabetologia ◽  
1998 ◽  
Vol 41 (5) ◽  
pp. 584-588 ◽  
Author(s):  
S. Suzuki ◽  
Y. Hinokio ◽  
M. Ohtomo ◽  
M. Hirai ◽  
A. Hirai ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Mitochondrial Dna ◽  
Coenzyme Q ◽  
Inherited Diabetes

Audiologic Findings in Patients with a Point Mutation at Nucleotide 3,243 of Mitochondrial Dna

1997 ◽  
Vol 106 (4) ◽  
pp. 338-342 ◽  
Author(s):  
Ken Kitamura ◽  
Masatoyo Nishizawa ◽  
Yuya Tamagawa ◽  
Hideo Hagiwara ◽  
Toshikazu Sajto ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Mitochondrial Myopathy ◽  
Speech Discrimination ◽  
Mitochondrial Trna ◽  
Significant Difference ◽  
Advanced Stages ◽  
Common Shape ◽  
Inherited Diabetes

A mitochondrial tRNALeu(UUR) mutation at nucleotide 3,243 is known to be found in most patients with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) and has also been identified in several families with maternally inherited diabetes mellitus and hearing loss. We report here audiologic features in patients with hearing loss associated with the mutation. Four patients without and five with MELAS were studied. Most of the patients had bilateral progressive sensorineural hearing loss. The most common shape of the audiogram was sloping, while cases in the advanced stages had flat audiograms. Speech discrimination scores were generally poor and did not parallel the degree of hearing loss. The present study suggests that the lesion for hearing loss could include both cochlear and retrocochlear involvement, but does not demonstrate a significant difference in the audiologic findings between patients with and without MELAS.

scholarly journals Maternally-inherited diabetes with deafness (MIDD) and hyporeninemic hypoaldosteronism

2012 ◽  
Vol 56 (8) ◽  
pp. 574-577 ◽  
Author(s):  
Patricia B. Mory ◽  
Marcia C. dos Santos ◽  
Claudio E. Kater ◽  
Regina S. Moisés
Keyword(s):  
Mitochondrial Dna ◽  
Hearing Impairment ◽  
Monogenic Diabetes ◽  
Rare Form ◽  
Mitochondrial Cytopathies ◽  
Inherited Diabetes

Maternally-inherited diabetes with deafness (MIDD) is a rare form of monogenic diabetes that results, in most cases, from an A-to-G transition at position 3243 of mitochondrial DNA (m.3243A>G) in the mitochondrial-encoded tRNA leucine (UUA/G) gene. As the name suggests, this condition is characterized by maternally-inherited diabetes and bilateral neurosensory hearing impairment. A characteristic of mitochondrial cytopathies is the progressive multisystemic involvement with the development of more symptoms during the course of the disease. We report here the case of a patient with MIDD who developed hyporeninemic hypoaldosteronism. Arq Bras Endocrinol Metab. 2012;56(8):574-7

Sign in / Sign up

Export Citation Format

Share Document