Navigation Links
Mutant protein in muscle linked to neuromuscular disorder
Date:4/16/2014

Sometimes known as Kennedy's disease, spinal and bulbar muscular atrophy (SBMA) is a rare inherited neuromuscular disorder characterized by slowly progressive muscle weakness and atrophy. Researchers have long considered it to be essentially an affliction of primary motor neurons the cells in the spinal cord and brainstem that control muscle movement.

But in a new study published in the April 16, 2014 online issue of Neuron, a team of scientists at the University of California, San Diego School of Medicine say novel mouse studies indicate that mutant protein levels in muscle cells, not motor neurons, are fundamentally involved in SBMA, suggesting an alternative and promising new avenue of treatment for a condition that is currently incurable.

SBMA is an X-linked recessive disease that affects only males, though females carrying the defective gene have a 50:50 chance of passing it along to a son. It belongs to a group of diseases, such as Huntington's disease, in which a C-A-G DNA sequence is repeated too many times, resulting in a protein with too many glutamines (an amino acid), causing the diseased protein to misfold and produce harmful consequences for affected cells. Thus far, human clinical trials of treatments to protect against these repeat toxicities have failed.

In the new paper, a team led by principal investigator Albert La Spada, MD, PhD, professor of pediatrics, cellular and molecular medicine, and neurosciences, and the associate director of the Institute for Genomic Medicine at UC San Diego, propose a different therapeutic target. After creating a new mouse model of SBMA, they discovered that skeletal muscle was the site of mutant protein toxicity and that measures which mitigated the protein's influence in muscle suppressed symptoms of SBMA in treated mice, such as weight loss and progressive weakness, and increased survival.

In a related paper, published in the April 16, 2014 online issue of Cell Reports, La Spada and colleagues describe a potential treatment for SBMA. Currently, there is none.

The scientists developed antisense oligonucleotides sequences of synthesized genetic material that suppressed androgen receptor (AR) gene expression in peripheral tissues, but not in the central nervous system. Mutations in the AR gene are the cause of SBMA, a discovery that La Spada made more than 20 years ago while a MD-PhD student.

La Spada said that antisense therapy helped mice modeling SBMA to recover lost muscle weight and strength and extended survival.

"The main points of these papers is that we have identified both a genetic cure and a drug cure for SBMA at least in mice. The goal now is to further develop and refine these ideas so that we can ultimately test them in people," La Spada said.


'/>"/>

Contact: Scott LaFee
slafee@ucsd.edu
619-543-6163
University of California - San Diego
Source:Eurekalert  

Related biology news :

1. Artificial intelligence helps detect subtle differences in mutant worms
2. Researchers generate a mutant mouse model useful in the treatment of neuromuscular diseases
3. Mutant gene responsible for pigeons head crests
4. Mutant champions save imperiled species from almost-certain extinction
5. Mechanism of mutant histone protein in childhood brain cancer revealed
6. Zebrafish help identify mutant gene in rare muscle disease
7. In odd-looking mutant, clues about how maize plants control stem cell number
8. IU biologists offer clearer picture of how protein machine systems tweak gene expression
9. Making memories: How 1 protein does it
10. Embryonic development protein active in cancer growth
11. More effective method of imaging proteins
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Mutant protein in muscle linked to neuromuscular disorder
(Date:4/11/2017)... , Apr. 11, 2017 Research and ... Market 2017-2021" report to their offering. ... The global eye tracking market to grow at a ... report, Global Eye Tracking Market 2017-2021, has been prepared based on ... covers the market landscape and its growth prospects over the coming ...
(Date:4/11/2017)... April 11, 2017 NXT-ID, Inc. (NASDAQ: ... company, announces the appointment of independent Directors Mr. Robin ... its Board of Directors, furthering the company,s corporate governance and ... Gino Pereira ... look forward to their guidance and benefiting from their considerable ...
(Date:4/5/2017)... April 5, 2017  The Allen Institute for Cell ... Explorer: a one-of-a-kind portal and dynamic digital window into ... data, the first application of deep learning to create ... cell lines and a growing suite of powerful tools. ... these and future publicly available resources created and shared ...
Breaking Biology News(10 mins):
(Date:5/18/2017)... ... May 17, 2017 , ... Cognition Corporation ... has just released version 9.0 of the Cognition Cockpit platform. , “Our whole ... says David Cronin, CEO of Cognition. “We’re thrilled to finally be able to ...
(Date:5/18/2017)... ... May 17, 2017 , ... HOLLOWAY AMERICA, a ... food and dairy, munitions, and pharmaceutical/biotech, recently introduced The Revolution Lift™, a new ... The improvement in technology comes on the heels of HOLLOWAY’s release of the ...
(Date:5/18/2017)... ... May 17, 2017 , ... Many complicated neurological ... to develop Alzheimer’s disease, while men are at greater risk for Parkinson’s disease. ... bias is the aim of a research program at Worcester Polytechnic Institute (WPI) ...
(Date:5/16/2017)... ... 16, 2017 , ... Genedata, a leading provider of advanced ... Group Meetings, which will be held in Boston, Cambridge/UK, Shanghai, and Tokyo. These ... data analysis and learn about the latest advances in screening technologies and applications. ...
Breaking Biology Technology: