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:3/1/2017)... -- Aware, Inc. (NASDAQ: AWRE), a leading supplier of biometrics ... has resigned, effective March 3, 2017, as co-Chief ... Treasurer of Aware citing a desire to retire.  Mr. ... the Board of Directors of Aware. ... co-President, General Counsel has been named Chief Executive Officer, ...
(Date:2/28/2017)... -- News solutions for biometrics, bag drop and New ... At ... 16 March, Materna will present its complete end-to-end passenger journey, ... a real benefit for passengers. To accelerate the whole passenger ... point solutions to take passengers through the complete integrated process ...
(Date:2/27/2017)... , Feb. 27, 2017   Strategic Cyber Ventures ... it has led a $3.5 million investment in  Polarity ... Strategic Cyber Ventures is DC based and is led ... Hank Thomas . Ron Gula , also a ... also participated in this series A round of funding. ...
Breaking Biology News(10 mins):
(Date:3/23/2017)... GREENWOOD VILLAGE, Colo. , March 23, 2017 /PRNewswire/ ... million in Series A financing and note conversion to ... products. Cool Planet is focused on developing products that ... raised nearly $30 million in the last 18 months. ... Coppel and North Bridge Venture Partners. ...
(Date:3/22/2017)... (PRWEB) , ... March 22, 2017 , ... ... up human tissue regeneration from small lab samples to full-size tissues, bones, even ... to establish a vascular system that delivers blood deep into the developing tissue. ...
(Date:3/22/2017)... , March 22, 2017 Oramed ... ( www.oramed.com ), a ... oral drug delivery systems, announced today that Dr. ... will deliver a presentation titled, "Oral Insulin for ... Cambridge Healthtech Institute,s Oligonucleotide and Peptide Therapeutics (OPT) ...
(Date:3/22/2017)... TORONTO , March 22, 2017 /PRNewswire/ - ... Therapeutics (the "Company" or "Propellon"), a start-up created ... WDR5-targeted anti-cancer therapeutics. FACIT,s investment, combined with non-dilutive ... lead program. The seed funding enables Propellon to ... position the Company for financing and/or entering a ...
Breaking Biology Technology: