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:5/26/2016)... ... May 26, 2016 , ... W.S. Badger Co. Inc ... honored with a 2016 When Work Works Award for its use of effective workplace ... national When Work Works project administered by the Families and Work Institute (FWI) and ...
(Date:5/26/2016)... (PRWEB) , ... May 26, 2016 , ... ... and clinical outcomes, hosted members and suppliers for its inaugural Member Conference at ... on their mission of elevating the operational health of America’s healthcare providers. , ...
(Date:5/26/2016)... ... ... Connor Sports, through its Connor Cares initiative, will continue to ... Legacy Tour that will commemorate the Indiana Fever legend’s hall-of-fame career and final ... and levels of the game, Connor Sports has committed to a significantly increased focus ...
(Date:5/26/2016)... ... 26, 2016 , ... The Woodlands at John Knox Village , Florida’s ... care for living and healing, celebrated its grand opening, today. The Woodlands at John ... provided by Empowered Staff. , “This is an incredibly fulfilling time for John Knox ...
(Date:5/26/2016)... (PRWEB) , ... May 26, 2016 , ... There are ... more than 32 million cancer survivors worldwide. On Sunday, June 5, 2016, communities around ... annual National Cancer Survivors Day®. , National Cancer Survivors Day® is an annual ...
Breaking Medicine News(10 mins):
(Date:5/25/2016)... According to a new market ... 4D), by Therapeutic Area (Oncology, Cosmeceutical/Plastic Surgery), by Application ... Manufacturers, Hospitals/ Clinics) - Forecast to 2021", published by ... for the forecast period of 2016 to 2021. This ... 2021 from USD 117.3 Million in 2016, at a ...
(Date:5/25/2016)... , May 25, 2016 ... Size, Share, Development, Growth and Demand Forecast to 2022 ... Insulin Pump and Others)" published by P&S Market Research, ... $9,998.3 million in 2015, and it is expected to ... on type, the insulin pump segment is expected to ...
(Date:5/25/2016)... , May 25, 2016 ... employing the precision of circulating tumour DNA (ctDNA) ... announces the appointment of Professor Clive Morris ... medical leadership across the clinical development programme, scientific ... products help deliver significant improvements in clinical outcomes ...
Breaking Medicine Technology: