Mutations in the caveolin-3 gene have previously been linked to muscular dystrophy. In this study, the authors identified five nonconsanguineous Japanese patients with muscular dystrophy and degeneration of their fat tissue (a condition known as lipodystrophy) whose muscles were deficient in caveolin-3 protein in the absence of mutations in their caveolin-3 gene. Detailed genetic analysis revealed that these individuals had mutations in their PTRF gene, which is responsible for making a protein thought to influence caveolin protein stabilization. Further investigation confirmed this as a function for the PTRF protein, as the mutated forms of the PTRF gene generated mutant PTRF proteins that could not localize correctly or associate with caveolin proteins. The authors therefore conclude that disease in the five patients studied is likely to be a result of caveolin deficiencies secondary to the PTRF gene mutations.
TITLE: Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy https://www.the-jci.org/article.php?id=38660
Journal of Clinical Investigation
There are no references listed for this article.
Please use one of the following formats to cite this article in your essay, paper or report:
Honey, Karen. "New Gene Linked To Muscular Dystrophy." Medical News Today. MediLexicon, Intl., 11 Aug. 2009. Web.
24 May. 2017. <http://www.medicalnewstoday.com/releases/160353.php>
Honey, K. (2009, August 11). "New Gene Linked To Muscular Dystrophy." Medical News Today. Retrieved from
Please note: If no author information is provided, the source is cited instead.
Contact our news editors
For any corrections of factual information, or to contact our editorial team, please see our contact page.
Copyright Medical News Today: Excluding email/sharing services explicitly offered on this website, material published on Medical News Today may not be reproduced, or distributed without the prior written permission of Medilexicon International Ltd. Please contact us for further details.