A new mitochondrial DNA mutation at 14577 T/C is probably a major pathogenic mutation for maternally inherited type 2 diabetes.

Tawata, Masato; Hayashi, Jun‐Ichi; Isobe, Kotoyo; Ohkubo, Eizo; Ohtaka, Masayuki; Chen, Jing; Aida, Kaoru; Onaya, Toshimasa

doi:10.2337/diabetes.49.7.1269

Cited by 59 publications

(19 citation statements)

References 21 publications

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“…This patient had type 2 DM diagnosed before the age of 40 and presented neurosensorial deafness and cardiomyopathy. The T14577C mutation in the NADH-dehydrogenase 6 (ND6) gene was fi rst identifi ed in 1.2% of a sample of Japanese type 2 diabetic patients, not being observed in any subject of the control group (17). We found this mutation in a patient with "classical" type 2 DM and also in a patient within the MIDD group.…”

Section: Discussionmentioning

confidence: 92%

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

Crispim

Estivalet

Roisenberg

et al. 2008

Arq Bras Endocrinol Metab

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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 fi ve others potentially pathogenic mutations that were also screened in the remaining patients. Overall, the frequency of the fi fteen 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.

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Section: Discussionmentioning

confidence: 92%

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

Crispim

Estivalet

Roisenberg

et al. 2008

Arq Bras Endocrinol Metab

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“…Mitochondrial single nucleotide polymorphisms (mtSNPs) C1310T, A1382C, G1438A, A1202G, A3252G, A3256T, A3264C, A3271C, T3290C, C3303T, G3316A, T3394C, A5178C, A8296G, A8344G, A10398G, G11778A, A12026G, C12258A, T14577C, T14709C, T16519C, A14693G and T16189C etc have been reported to be associated with T2DM (Tawata et al 2000;Mohlke et al 2005;Salles et al 2007;Liou et al 2007;Bhat et al 2007a, b). Most of these variants are rare and many are associated with additional traits such as deafness, neurological symptoms, or myopathy.…”

Section: Methodsmentioning

confidence: 99%

Novel Mutations of Mitochondrial DNA Associated with Type 2 Diabetes in Chinese Han Population

Liao

Pang

et al. 2008

Tohoku J. Exp. Med.

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Mitochondrial single nucleotide polymorphisms (mtSNPs) have been reported to associate with type-2 diabetes mellitus (T2DM), but mtSNPs appear to be considerably different among different populations and regions. To determine mtSNPs in Chinese Han patients with T2DM, the entire sequences of the mitochondrial genomes from 72 T2DM Chinese (59 ± 4 years) and 50 age-matched healthy subjects (controls) in Chongqing region of Western China were directly sequenced and mtSNPs were analyzed. We found that M8, M9, D, G, R and A haplogroups exist in Chinese Han population and the frequency of haplogroup M9 was significantly higher in patients with T2DM than in the controls ( p = 0.0006, OR 0.06 [95% CI 0.008-0.476]). MtSNPs T3394C in NADH dehydrogenase subunit 1 (ND1), G4491A in ND2, T16189C and T16519C were found with significantly higher frequency in patients with T2DM than in the controls (T16189C, p = 0.0045; T16519C, p < 0.0001; T3394C, p = 0.0015; G4491A, p = 0.0015). In contrast, the frequency of C5178A in ND2 and A10398G in ND3 was higher in the controls than in patients with T2DM (C5178A, p = 0.014; A10398G, p = 0.0011). Our results indicate that mtSNPs T3394C, G4491A, T16189C and T16519C show susceptible tendency to T2DM and mtSNPs C5178A and A10398G seem to be genetic factors for against T2DM. These mtSNPs determined in our study is useful and could be used for early diagnosis and prevention of T2DM in Chinese Han population.type-2 diabetes mellitus; mitochondrial genome; single nucleotide polymorphisms; haplogroup; Chinese.Tohoku

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“…Tawata et al reported that mtDNA mutations at nucleotides 1310, 12026, and 14577 are associated with type 2 diabetes, 22,23 and several SNPs in the NADH dehydrogenase subunit genes have been reported in patients with Parkinson's disease. 24 There have been a few studies addressing the associations between mitochdrial polymorphism and diseases, [25][26][27][28][29] but further studies are needed to clarify the role of the mitochodrial genotype in common diseases.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial 5178A/C Genotype is Associated With Acute Myocardial Infarction.

Mukae

Aoki

Itoh

et al. 2003

Circ J

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ardiovascular diseases are thought to result from the interaction of multiple environmental and genetic factors. [1][2][3] The ECTIM study showed that the ACE DD genotype was more frequent in patients with myocardial infarction than in control subjects, 4 and Tiret et al also showed that the association between the ACE DD genotype and myocardial infarction was increased in a subset of patients who also carried the angiotensin II type 1 C allele. 5 Other studies have confirmed the association of the ACE D allele and angiotensin II type 1 receptor C allele with an increased risk of myocardial infarction, 6-10 and furthermore, there have been several reports of the association of some nuclear genes with coronary heart diseases in Japanese subjects. 11-13 However, few have addressed the association between polymorphisms of the mitochondria (mt) and coronary heart disease.Human mitochondrial DNA (mtDNA) consists of 16,569 base pairs (bp) located on the circular double strand of the H-and L-chains: 13 types of proteins, 22 types of transfer RNA (tRNA) and 2 types of liposome RNAs are densely coded in a region other than the non-coding region of approximately 1 kb. The mtDNA is highly polymorphic and controls the oxidative phosphorylation system regulating the oxygen metabolism.Tanaka et al reported a mutation specifically seen in Japanese subjects at nucleotide 5178 within the NADH dehydrogenase in the mitochondrial electron transport system Complex 1; mitochdrial 5178A/C is involved in a Met to Leu substitution. [14][15][16][17][18] According to them, the ratio of adenine (A) is approximately half that in healthy people and Japanese centenarians mostly carry A at 5178, which is rarely seen in Europeans or non-Japanese Asians. Based on their findings, they suggested that the high ratio of 5178A may be specific to the Japanese population and possibly related to the fact that the life expectancy at birth in Japan is among the highest in the world.Maternally transmitted mitochondrial genotypes may influence oxidative damage and 5178A/C may be relevant to common diseases. The aim of the present research was to examine the association between genetic factors and the incidence of myocardial infarction. In particular, we focused on the association between mitochondrial genotypes and coronary heart disease; in order to demonstrate a contribution of mitochondrial single nucleotide polymorphisms (SNPs) to the susceptibility to acute myocardial infarction (AMI), we investigated the association of mitochondrial 5178A/C polymorphism with the occurrence of AMI. Methods Study PopulationParticipants were randomly selected inpatients and outpatients treated at the University Hospital and affiliated hospitals in Tokyo, Japan. We divided the study subjects, all of them Japanese, into 4 groups.(1) AMI group, which consisted of 150 patients (102 men, mean age: 64 years old) who underwent coronary angiography at our University Hospital from 1997 to 1999. AMI was diagnosed from clinical evidence of cardiac attack, electrocardiographic findi...

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A new mitochondrial DNA mutation at 14577 T/C is probably a major pathogenic mutation for maternally inherited type 2 diabetes.

Cited by 59 publications

References 21 publications

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

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

Novel Mutations of Mitochondrial DNA Associated with Type 2 Diabetes in Chinese Han Population

Mitochondrial 5178A/C Genotype is Associated With Acute Myocardial Infarction.

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