Some 50,000 Americans have some form of muscular dystrophy, and there are currently no cures. Mayo Clinic researchers note that their work may help contribute to a cure because it increases the understanding of the muscular dystrophy disease process and the role genes play in it. They say their research is a crucial first step toward discovering treatments, because genes offer a promising target at which aim new therapies. The report on the discovery will appear in the Jan. 26 online version of the journal Annals of Neurology (http://www3.interscience.wiley.com/cgi-bin/jissue/78504407).
The Mayo Clinic researchers found that any one of three mutations in the gene that supplies the instructions for creating a protein known as " ZASP" can cause the newly defined disorder. The genes involved in zaspopathy are passed along to offspring in a dominant manner. This means that a child will develop the disorder by inheriting one copy of the mutant gene from one parent. The Mayo Clinic researchers tentatively named the new syndrome "zaspopathy" after the affected ZASP protein.
Significance of the Mayo Clinic Research
The identification of this new form of muscular dystrophy highlights the importance of scientific collaborations and the integration of different kinds of data. Laboratory information from ZASP alone was not enough to clarify the finding; clinical data from a large patient base was also necessary to support the clues given by ZASP.
Contact: Lisa Lucier