News Release
 

March 17, 2010

CONTACT: Karen Kreeger
215-349-5658
karen.kreeger@uphs.upenn.edu

Penn Medicine - University of Pennsylvania School of Medicine and University of Pennsylvania Health System


This release is available online at
http://www.uphs.upenn.edu/news/News_Releases/2010/03/spinal-muscular-atrophy/

Penn Researchers Clarify Cause of Spinal Muscular Atrophy

Gideon Dreyfuss, PhD, the Isaac Norris Professor of Biochemistry and Biophysics at the University of Pennsylvania School of Medicine, and Investigator, Howard Hughes Medical Institute (HHMI), and Sungchan Cho, PhD, a postdoctoral researcher in the Dreyfuss lab, have made a surprising discovery regarding the molecular basis underlying spinal muscular atrophy (SMA), an often fatal neurodegenerative disease and the most common genetic cause of childhood mortality.

The findings suggest that there may be a way to promote survival of neurons by helping a beneficial protein linger a little longer inside nerve cells. Patients with SMA gradually lose the motor neurons in the spine that control most of their muscles. Researchers have known since the 1990s that the disease is nearly always linked to the absence or disruption of a gene known as SMN1 (Survival of Motor Neuron 1). A nearby gene, SMN2, is virtually identical to SMN1, and in principle could produce enough SMN protein to keep neurons healthy – yet somehow fails to do so. The findings appear in the March issue of Genes & Development.

For more, read the HHMI summary at http://www.hhmi.org/news/dreyfuss20100301.html

A related past news release is available at http://www.uphs.upenn.edu/news/News_Releases/2008/05/smn-spinal-muscular-atrophy.html

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