Navigation Links
Penn researchers gain new insights on spinal muscular atrophy
Date:5/29/2008

PHILADELPHIA Researchers from the University of Pennsylvania School of Medicine discovered that the effect of a protein deficiency, which is the basis of the neuromuscular disease spinal muscular atrophy (SMA), is not restricted to motor nerve cells, suggesting that SMA is a more general disorder. This new insight will allow for better understanding of how this complex disease arises. Gideon Dreyfuss, PhD, the Isaac Norris Professor of Biochemistry and Biophysics and Investigator, Howard Hughes Medical Institute and colleagues, report their findings in last week's issue of Cell.

SMA is a group of hereditary diseases that causes weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are a result of genetic lesions in a gene called survival of motor proteins (SMN) that cause a deficiency in the SMN protein. This protein is essential for all cells, but reduced levels of SMN cause spinal muscular atrophy. Why this seemingly cell-specific reduction happens is not known.

SMN normally works in all cells to bring small RNAs together with specific proteins to form particles called snRNPs (pronounced snurps). snRNPs are the molecular machines that splice different parts of RNA together to form the messenger RNA (mRNA) before it leaves the nucleus to travel to the cytoplasm. Here, mRNAs get translated into working proteins.

"SMN plays a key role in determining the inventory of the different types of snRNPs in all cells, what we call the snRNP repertoire or the 'snRNPertoire,'" says Dreyfuss. "When SMN levels are reduced, the biochemical balance needed to make the snRNP complexes for splicing RNA is impaired."

The Dreyfuss lab looked at reduced SMN levels in cultured cells and mice and found that changes in levels of the snRNPs, as well as the mRNAs their spliced products were affected, producing numerous abnormal mRNAs. These effects varied from tissue to tissue. The findings suggest that spinal muscular atrophy is a general disease of splicing.

"Now we know that SMA is clearly a disease that not only affects motor neurons, but all cell types when the gene for SMN is damaged," says Dreyfuss. In the end, concludes Dreyfuss, this is a different way to look at the disease. Finding a way to restore SMN levels in the entire body is one therapeutic approach to aim for, based on these findings.


'/>"/>

Contact: Karen Kreeger
karen.kreeger@uphs.upenn.edu
215-349-5658
University of Pennsylvania School of Medicine
Source:Eurekalert

Related medicine news :

1. Stanford researchers find culprit in aging muscles that heal poorly
2. UCLA researchers identify markers that may predict diabetes in still-healthy people
3. Mayo Clinic researchers discover new diagnostic test for detecting infection in prosthetic joints
4. Bipolar disorder relapses halved by Melbourne researchers
5. Cell that triggers symptoms in allergy attacks can also limit damage, Stanford researchers find
6. High and mighty: first common height gene identified by researchers behind obesity gene finding
7. Researchers estimate about 9 percent of US children age 8 to 15 meet criteria for having ADHD
8. Majority of 2.4 Million U.S. Children With ADHD Not Diagnosed or Consistently Treated, According to New Gold Standard Study by Cincinnati Childrens Researchers
9. Researchers develop long-lasting growth hormone
10. Jefferson immunology researchers halt lethal rabies infection in brain
11. Purdue researchers develop technology to detect cancer by scanning surface veins
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/2/2016)... ... ... Lori G. Cohen and Sara K. Thompson , shareholders ... American Conference Institute’s 21st Drug & Medical Device Litigation Conference , taking place in ... , Cohen, who chairs the firm’s Pharmaceutical, Medical Device & Health Care Litigation Practice ...
(Date:12/2/2016)... ... ... over twenty-four years, Doctors on Liens has published a directory of the top ... care. When the company started in 1997, the directory was a single page focusing ... now ten-page directory features a vast array of medical specialists stretching from Sacramento ...
(Date:12/2/2016)... California (PRWEB) , ... December 02, 2016 , ... ... professionals, proudly announces the launch of its 60-day free trial program for all ... trip shipping make the offer a truly hassle free experience. , FlexiSpot’s unique ...
(Date:12/2/2016)... (PRWEB) , ... December 02, 2016 , ... U.S. Surgeon ... interview with Mediaplanet, Dr. Murthy explains how he was inspired to practice medicine at ... learned that medicine is about more than making diagnoses and prescribing medicine,” he states. ...
(Date:12/2/2016)... ... December 02, 2016 , ... ... Hills, California, will be included in the 2016 “Guide to America’s Top Plastic ... based on the amalgamation of their education, experience, and professional associations. , ...
Breaking Medicine News(10 mins):
(Date:12/2/2016)... December 2, 2016 On Thursday, the ... the Dow Jones Industrial Average edged 0.36% higher, to finish ... 0.35%. Losses were broad based as six out of nine ... research reports on the following Services equities: Myriad Genetics Inc. ... QGEN ), INC Research Holdings Inc. (NASDAQ: INCR ...
(Date:12/2/2016)... 2016 The concept of rare diseases and the ... this sector has been taking shape in Europe ... aspects and initiatives related to orphan medicinal products have been ... of member states individually. Many member states in the EU ... of orphan medicinal products, the result of which took the ...
(Date:12/2/2016)... 1, 2016 Around the corners of world, ... each habitable land present over earth. Cancer has become ... in a life time this is because of the ... now. Given the steady increase in global cancer incidence ... spiraling healthcare costs of treatment, there is increasing interest ...
Breaking Medicine Technology: