Scientists have generated pluripotent stem cells from the skin cells of a patient with spinal muscular atrophy (SMA), and show that these cells can be used to model the specific pathology for inherited diseases. The research, published online in Nature, represents a promising tool for understanding disease at a cellular level and also for drug screening.
SMA is a genetic disorder, and one of the most common inherited forms of neurological disease in children. Allison Ebert and colleagues use skin cells from a child with SMA and his unaffected mother. They show, for the first time, that human induced pluripotent stem cells can be used to model the disease mechanisms, as the differentiated neural tissue and motor neurons derived from these cells maintain the disease phenotype. The cultures also responded to drugs known to increase the levels of the protein associated with the disease. This creates a tool for studying disease pathology at the cellular level, and for developing and screening new drugs and therapies.
Allison Ebert (University of Wisconsin-Madison, WI, USA)
Abstract available online.
(C) Nature press release.
Message posted by: Trevor M. D'Souza
Bookmark and Share this page (what is this?)
Social bookmarking allows users to save and categorise a personal collection of bookmarks and share them with others. This is different to using your own browser bookmarks which are available using the menus within your web browser.
Use the links below to share this article on the social bookmarking site of your choice.
Read more about social bookmarking at Wikipedia - Social Bookmarking