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Penn study finds signs folic acid and Vitamin B12 may lessen some ill effects of SMA

NOTE: The text of this release was revised on 23 MAY 2001 at 12:00 ET US.

Scientist says clinical trials should test findings

Scientists have found evidence suggesting that the severity of spinal muscular atrophy (SMA) may be ameliorated by common vitamins.

The findings by researchers at the University of Pennsylvania School of Medicine, which are to be published Thursday in the journal Molecular Cell, suggest that folic acid and Vitamins B12 may limit the severity of symptoms that afflict SMA patients.

"We are not suggesting that this is a cure. But it may help," said Gideon Dreyfuss, PhD, Isaac Norris Professor of Biochemistry and a Howard Hughes Medical Institute Investigator at Penn, and principal author of the study. SMA afflicts one of every 6,000-to-10,000 people and is the leading genetic killer of children under the age of two. But its symptoms-muscle weakness and wasting-differ in severity from person to person across a range of debilitation that scientists still cannot explain fully.

Most SMA patients die in their infancy, but some SMA patients do not become wheel-chair bound before the age of 20, and still others can live relatively normally until late in life. Until now, this variability has been attributed to "genetic modifiers" but the present study raises the possibility that it is influenced, perhaps to a significant extent, by nutritional factors.

Individuals afflicted with SMA have a genetic deficiency in a protein called SMN (survival of motor neurons), which is a "housekeeping" protein required by all cells -- especially motor neurons, the nerve cells that control the activity of muscles. When the levels of the SMN protein are too low, motor neurons are the first cells to degenerate, in turn leaving the major muscle groups without the stimulation they need to be viable.

To perform its function, SMN interacts with numerous proteins in the cell, helping them create som
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Contact: Ellen O'Brien
ellen.obrien@uphs.upenn.edu
215-349-5659
University of Pennsylvania School of Medicine
24-May-2001


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