Navigation Links
Research suggests new cause to blame for spinal muscular atrophy
Date:6/21/2012

CHAPEL HILL, NC Over 15 years ago, researchers linked a defect in a gene called survival motor neuron -- or SMN -- with the fatal disease spinal muscular atrophy. Because SMN had a role in assembling the intracellular machinery that processes genetic material, it was assumed that faulty processing was to blame.

Now, University of North Carolina scientists have discovered that this commonly held assumption is wrong and that a separate role of the SMN gene still not completely elucidated -- is likely responsible for the disease's manifestations. The research appears Thursday June 21, 2012 in the journal Cell Reports.

"There are a number of gene therapies and RNA therapies in the pipeline that may still work regardless of the underlying cause of the disease," said senior study author Gregory Matera, PhD, professor in the departments of biology and genetics and a member of the Program in Molecular Biology and Biotechnology in the UNC School of Medicine.

"But if those approaches don't pan out, it could be that the therapy isn't reaching the precise tissues where defective SMN is most damaging," he added. "Our result is exciting because we now have a starting point to uncover what is truly causing this disease so we can more effectively treat it."

Spinal muscular atrophy is characterized by muscle weakness and wasting (atrophy) resulting from the progressive loss of motor neurons in the spinal cord. The disease is due to a partial loss of function in the SMN gene that normally loads up the "splicing" machinery with the proteins necessary for cutting and pasting the cell's genetic instructions together. Cells that completely lack SMN fail to correctly generate and process the genetic blueprint for the proteins needed to carry out the rest of the body's activities.

But in addition to roles in splicing, SMN has been implicated in a number of other processes that occur only in specific tissues, such as the formation
'/>"/>

Contact: Les Lang
llang@med.unc.edu
919-966-9366
University of North Carolina Health Care
Source:Eurekalert

Page: 1 2

Related biology technology :

1. Penn researchers study of phase change materials could lead to better computer memory
2. Researchers tune the strain in graphene drumheads to create quantum dots
3. Graphene Research: Trapping light in a carbon net
4. BioRestorative Therapies Enters Into Brown Fat Research Agreement With University of Utah
5. Cetero Research Announces Executive Appointments and New Company Name
6. WHEATON® Introduces a New Web Community for Scientists, Researchers, and Biopharmaceutical Packagers
7. Dr. Victor Ambros and Dr. Gary Ruvkun Win 2012 Dr. Paul Janssen Award for Biomedical Research for Discovery of MicroRNAs
8. Palatin Technologies Announces Halting of Phase I Clinical Trial of Obesity Compound in AstraZeneca Research Collaboration
9. Auxogyn And Reproductive Medicine Associates of New Jersey Partner To Advance in vitro fertilization Research
10. Economic Alliance of Greater Baltimore Inks Business Partnership with BioHealth Innovation to Bring Health and Life Sciences Research to Market
11. ResearchMoz: Bone Metabolism Therapeutics Market to 2018 - Hyperparathyroidism Sector to Decline in the Absence of New Product Launches and Increased Generic Erosion for Zemplar, Hectorol and Sensipar- Market Research Report
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/30/2014)... JUPITER, Fla. , July 30, 2014 /PRNewswire/ ... global biotechnology company whose patented and proprietary technologies ... enzymes and other proteins for the bioenergy, bio-based ... the appointment of Thomas "Tom" Dubinski as Vice ... responsible for leading the financial and information technology ...
(Date:7/30/2014)... July 30, 2014  RXi Pharmaceuticals Corporation ... company focused on discovering, developing and commercializing ... using RNA-targeted technologies, today announced that their ... for the reduction of recurrence of hypertrophic ... been initiated. Logo - ...
(Date:7/30/2014)... CA (PRWEB) July 30, 2014 Adding ... their weighing boat special – Buy 2 ... free. This promotion will benefit lab technicians looking for ... Weighing boats are ideal for multiple applications including weighing ... a variety of choices including diamond-shaped, hexagonal, square, aluminum ...
(Date:7/29/2014)... 2014 “PharmaSphere: Emerging Biotech Investment ... Capital Funding” report provides in-depth analysis of the ... and venture capital segments of the financial industry, ... have significant impact on the future of emerging ... the report identifies regions of the world that ...
Breaking Biology Technology:Thomas Dubinski joins Dyadic as Chief Financial Officer 2Thomas Dubinski joins Dyadic as Chief Financial Officer 3Thomas Dubinski joins Dyadic as Chief Financial Officer 4RXi Pharmaceuticals Expands Clinical Program with Initiation of Third Phase 2a Study with RXI-109 for Treatment of Hypertrophic Scars 2RXi Pharmaceuticals Expands Clinical Program with Initiation of Third Phase 2a Study with RXI-109 for Treatment of Hypertrophic Scars 3RXi Pharmaceuticals Expands Clinical Program with Initiation of Third Phase 2a Study with RXI-109 for Treatment of Hypertrophic Scars 4RXi Pharmaceuticals Expands Clinical Program with Initiation of Third Phase 2a Study with RXI-109 for Treatment of Hypertrophic Scars 5Weighing Boat Promotion Now Available at Pipette.com, Major Pipette Distributor 2Strategic Trends of Biotech Investment Industry (Private Equity and Venture Capital Funding) in New Report Available at MarketOptimizer.org 2Strategic Trends of Biotech Investment Industry (Private Equity and Venture Capital Funding) in New Report Available at MarketOptimizer.org 3Strategic Trends of Biotech Investment Industry (Private Equity and Venture Capital Funding) in New Report Available at MarketOptimizer.org 4
... science and public policy with the needs of consumers ... any chance of reducing the effects of carbon on ... of the American Association for the Advancement of Science ... the global energy system, says Mike Davis, who leads ...
... morally acceptable? , For a significant percentage of Americans, ... of Americans, attitudes about the science of the very ... at the annual meeting of the American Association for ... Wisconsin-Madison professor of life sciences communication, presented new survey ...
... Therapies that Significantly Raises HDL "Good" Cholesterol and ... ... ABBOTT PARK, Ill., Feb. 15 Today, Abbott,received U.S. Food ... two widely prescribed cholesterol,therapies, Niaspan(R) (Abbott,s proprietary niacin extended-release) and,simvastatin. SIMCOR ...
Cached Biology Technology:Mission critical for carbon management 2Mission critical for carbon management 3Religion colors Americans' views of nanotechnology 2Abbott Receives FDA Approval for SIMCOR(R) (Niaspan(R) / simvastatin), a Novel Combination Medicine for Comprehensive Cholesterol Management 2Abbott Receives FDA Approval for SIMCOR(R) (Niaspan(R) / simvastatin), a Novel Combination Medicine for Comprehensive Cholesterol Management 3Abbott Receives FDA Approval for SIMCOR(R) (Niaspan(R) / simvastatin), a Novel Combination Medicine for Comprehensive Cholesterol Management 4Abbott Receives FDA Approval for SIMCOR(R) (Niaspan(R) / simvastatin), a Novel Combination Medicine for Comprehensive Cholesterol Management 5Abbott Receives FDA Approval for SIMCOR(R) (Niaspan(R) / simvastatin), a Novel Combination Medicine for Comprehensive Cholesterol Management 6
(Date:7/30/2014)... a multitude of cells types. Researchers would like to understand ... mature cells that make up the organs and other structures ... long chains of sugars that dangle from proteins on surfaces ... California, San Diego, has created synthetic molecules that can stand ... manipulated to direct the process, they report in the ...
(Date:7/29/2014)... by academics in the University of Bristol,s Nutrition and ... liquid calories into account when planning meals. , The ... Study of Ingestive Behavior Conference (SSIB 2014) in Seattle, ... that we do. , The team was led by ... of Experimental Psychology. , As part of a Biotechnology ...
(Date:7/29/2014)... 2014 Research and Markets  has announced ... (BI) Market 2014-2018" report to their offering. ... The term BI refers to applications and technologies that ... information about a company,s operations. BI help organizations to ... for example, metrics on sales, production, and internal operations. ...
Breaking Biology News(10 mins):Global SaaS-based Business Intelligence (BI) Market 2014-2018 2
... increase in the number of infections with a specific ... Salmonella serovar Typhimurium DT104, is resistant to at least ... genetic information in DNA of DT104 that might be ... information might also be involved in the increase in ...
... clinical trials, coronary artery bypass surgery performed on a beating ... safe option that leads to fewer negative side effects for ... Surgery. , “Previously, it was more common for doctors ... the heart and passing the blood through a heart-lung machine,?says ...
... key enzyme can soothe over-excited receptors in the brain, ... Alzheimer's and other neurodegenerative diseases. , Lead author Michel ... student Wei Xu and collaborators from the University of ... issue of Neuron. , The researchers injected ...
Cached Biology News:Salmonella survives better in stomach due to altered DNA 2Decoy pill saves brain cells 2
Request Info...
Immunogen: Recombinant full length protein. Storage: -20 C, Avoid Freeze/Thaw Cycles...
...
... Immunogen: Synthetic peptide derived from the ... bovine Math-2. Specificity: Specific for ... Rat (positive controls: human U251 A172 ... and rat brain homogenates)Storage: Store at ...
Biology Products: