Mitochondrial DNA Mutations Are Associated with Both Decreased Insulin Secretion and Advanced Microvascular Complications in Japanese Diabetic Subjects

Fukuda, Masataka; Nakano, Shigeru; Imaizumi, Noriko; Kitazawa, Mitsutaka; Nishizawa, Makoto; Kigoshi, Toshikazu; Uchida, Keiji

doi:10.1016/s1056-8727(99)00060-4

Cited by 21 publications

(7 citation statements)

References 28 publications

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“…2), which promotes the change of alanine to threonine in the peptide chain. This transition was first described in non-insulin-dependent diabetes mellitus (NIDDM) patients (Nakagawa et al, 1995) and was also described in patients with adult and childhood insulin-dependent diabetes mellitus, NIDDM and impaired glucose tolerance (Fukuda et al, 1999;Ji et al, 2001;Matsuura et al, 1999;Nakano et al, 1998;Odawara et al, 1996). This substitution was also reported in patients with mitochondrial disorders (Matsumoto et al, 1999;Sternberg et al, 1998) and dilated cardiomyopathy (Arbustini et al, 1998).…”

Section: Resultsmentioning

confidence: 77%

“…The patient presented changes in nucleotides 3316 and 3337 of the mtDNA ND1 gene. The first alteration (3316 Gto-A) promotes the change of a nonpolar alanine to a polar threonine in an essentially hydrophobic peptide, a nucleotide substitution that has been described in diabetes mellitus patients (Fukuda et al, 1999;Matsuura et al, 1999;Nakano et al, 1998;Odawara et al, 1996). However, the FTD patient in study does not present any clinical evidence of diabetes mellitus.…”

Section: Discussionmentioning

confidence: 89%

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Frontotemporal dementia and mitochondrial DNA transitions

Grazina

Silva

Santana

et al. 2004

Neurobiology of Disease

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Frontotemporal dementia (FTD) is the second most common type of primary degenerative dementia. Some patients present an overlap between Alzheimer's disease (AD) and FTD both in neuropathological and clinical aspects. This may suggest a similar overlap in physiopathology, namely an involvement of mitochondrial DNA (mtDNA) in FTD, as it has been associated to AD. To determine if mtDNA is involved in FTD, we performed a Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis, specific to mtDNA NADH Dehydrogenase subunit 1 (ND1) nucleotides 3337-3340, searching for mutations previously described in Parkinson's and AD patients. We could identify one FTD patient with two mtDNA transitions: one already known (3316 G-to-A) and another unreported (3337 G-to-A). Additionally, mitochondrial respiratory chain complex I activity was reduced in leukocytes of this patient (36% of the control mean activity). To our knowledge, this is the first report of mtDNA variants in FTD patients.

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Section: Resultsmentioning

confidence: 77%

Section: Discussionmentioning

confidence: 89%

Frontotemporal dementia and mitochondrial DNA transitions

Grazina

Silva

Santana

et al. 2004

Neurobiology of Disease

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“…The G3316A and T3394C mutations in the ND1 gene were reported as being associated with type 2 DM in some populations (29)(30)(31)(32)(33)(34); however, some authors did not observe any signifi cant differences between the frequencies of these mutations among diabetic patients and healthy subjects, suggesting that these mutation are only neutral polymorphisms (19,35,36). The A8348G mutation in the tRNA Lys gene has never been reported in diabetic patients, but was previously reported in association with several changes in mitochondria of cardiomyocytes in patients presenting hypertrophic cardiomyopathy (37).…”

Section: Discussionmentioning

confidence: 98%

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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“…Watson and colleagues' results appear to support the hypothesis that mutations in mtDNA causing renal tubule dysfunction may be partly responsible for the susceptibility to hypertension of African-Americans who have progressed to end-stage renal disease. Moreover, Fukuda and colleagues 330 suggest that mtDNA mutations in Japanese diabetic patients are related to the development of diabetes and that these mutations are associated not only with a decrease in insulin secretion but also with advanced diabetic microvascular complications.…”

Section: Mitochondrial Dnamentioning

confidence: 99%

A comprehensive view of sex-specific issues related to cardiovascular disease

Pilote¹,

Dasgupta²,

Guru³

et al. 2007

Canadian Medical Association Journal

372

256

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A comprehensive view of sex-specific issues related to cardiovascular disease Cardiovascular disease (CVD) is the leading cause of mortality in women. In fact, CVD is responsible for a third of all deaths of women worldwide and half of all deaths of women over 50 years of age in developing countries. The prevalence of CVD risk factor precursors is increasing in children. Retrospective analyses suggest that there are some clinically relevant differences between women and men in terms of prevalence, presentation, management and outcomes of the disease, but little is known about why CVD affects women and men differently. For instance, women with diabetes have a significantly higher CVD mortality rate than men with diabetes. Similarly, women with atrial fibrillation are at greater risk of stroke than men with atrial fibrillation. Historically, women have been underrepresented in clinical trials. The lack of good trial evidence concerning sex-specific outcomes has led to assumptions about CVD treatment in women, which in turn may have resulted in inadequate diagnoses and suboptimal management, greatly affecting outcomes. This knowledge gap may also explain why cardiovascular health in women is not improving as fast as that of men. Over the last decades, mortality rates in men have steadily declined, while those in women remained stable. It is also becoming increasingly evident that gender differences in cultural, behavioural, psychosocial and socioeconomic status are responsible, to various degrees, for the observed differences between women and men. However, the interaction between sex-and gender-related factors and CVD outcomes in women remains largely unknown. CMAJ 2007;176(6):S1-44 Although cardiovascular disease (CVD) is common, significant sex-related differences in its epidemiology have only recently been appreciated. The objective of this section is to demonstrate that there are sex-specific differences in the prevalence, complications and burden of CVD in terms of mortality, hospital admissions and quality of life. Abstract Search strategyA MEDLINE search was conducted using the MeSH terms "cardiovascular disease" OR "atrial fibrillation" OR "congestive heart failure." A second search used the terms "prevalence" OR "incidence" OR "mortality" and the final search combined the results of the first 2 searches and added the terms "gender" OR "sex." Articles identified in this manner were retrieved and their reference lists searched for additional relevant articles. The search was limited to English-language publications, but no other restrictions were applied. Other data sources included Web sites of the World Health Organization, the Canadian Institute for Health Information and the National Centre for Health Statistics. Thirty-three original studies were reviewed. Studies were included if they were cohort studies, case-control studies or nested cohort studies that examined the incidence, prevalence or mortality of CVD, congestive heart failure or atrial fibrillation. The studies had to include data on both ...

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Mitochondrial DNA Mutations Are Associated with Both Decreased Insulin Secretion and Advanced Microvascular Complications in Japanese Diabetic Subjects

Cited by 21 publications

References 28 publications

Frontotemporal dementia and mitochondrial DNA transitions

Frontotemporal dementia and mitochondrial DNA transitions

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

A comprehensive view of sex-specific issues related to cardiovascular disease

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