Journal Article
Research Support, Non-U.S. Gov't
Add like
Add dislike
Add to saved papers

Identification of a novel mitochondrial mutation in Dupuytren's disease using multiplex DHPLC.

Dupuytren's disease is a familial fibroproliferative disorder of late onset affecting the hands. It is extremely common in individuals of Northern European extraction. Genetic studies have yet to identify the genes involved in the formation of the disease. Mitochondria play a critical role in cell metabolism and apoptosis. It is known that defective mitochondria generate abnormally high levels of reactive oxygen species by means of electron leak and that antioxidant enzyme activities decrease with age in skin fibroblasts. Respiratory function of mitochondria is also impaired in aging human tissues. Oxidative stress and production of free radicals may be important factors in the pathogenesis of Dupuytren's disease. Mitochondrial genes are also included in the regulation of apoptosis. Diseased tissue contains large numbers of myo- fibroblasts, which disappear by apoptosis during normal wound healing. High numbers of mitochondria have been observed in fibroblasts derived from diseased tissue. In the light of this evidence, the mitochondrial genome represents a potential location for candidate susceptibility genes for this late-onset disorder. In this study, the authors investigated the presence of mutations within the mitochondrial genome in 40 subjects; 20 Caucasian Dupuytren's disease patients with a maternally transmitted inheritance pattern and 20 control subjects were matched for age, sex, and race using a multiplex denaturing high-performance liquid chromatography approach. A hitherto unknown heteroplasmic mutation located within the mitochondrial 16s rRNA region was evident in 90 percent of patients and absent from all control subjects (p < 0.001; chi2 = 16.1). This mutation may be important in the pathogenesis of Dupuytren's disease.

Full text links

We have located links that may give you full text access.
Can't access the paper?
Try logging in through your university/institutional subscription. For a smoother one-click institutional access experience, please use our mobile app.

Related Resources

For the best experience, use the Read mobile app

Mobile app image

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app

All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

By using this service, you agree to our terms of use and privacy policy.

Your Privacy Choices Toggle icon

You can now claim free CME credits for this literature searchClaim now

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app