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 issu
'/>"/>

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

Page: 1 2

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:5/14/2015)... 14, 2015 Research and Markets ( ... "Fingerprint Sensors Market in Smart Mobile Devices " ... that 2014 was a watershed year for fingerprint sensors ... ,Apple Pay,. Apple gave fingerprint sensors a raison d,etre ... Fingerprint sensors are a must-have feature in flagship smartphones. ...
(Date:5/11/2015)... a well-rounded UAS delegation representing private industry, government, and academia, ... AUVSI,s Unmanned 2015 conference last week in Atlanta ... UAS industry met with over 200 hundred people from companies ... ecosystem. "Our message is clear and consistent," ... Rich Knoll . "If you want to fly UAS, you ...
(Date:5/8/2015)... , May 8, 2015 Synaptics Inc. (NASDAQ: ... announced that members of the executive management team will present ... Annual Technology, Media and Telecom Conference Date: May 18, ... Boston, MA Cowen and ... Time: 2:45pm ET Location: The New York Palace Hotel, ...
Breaking Biology News(10 mins):Global Smart Mobile Devices Fingerprint Sensors Market 2015-2019: Key Vendors are Authentec, Validity Sensors, Fingerprint Cards, Next Biometrics Group. IDEX, and Qualcomm 2Ohio Flies High at Unmanned '15, Sets Stage for Ohio UAS Conference 2Synaptics to Present at Upcoming Investor Conferences 2
... In an effort to reduce the risks of diabetes and ... announced it has partnered with the YMCA of Greater Boston ... Diabetes) Program. The goal of this program is to show ... of cardiovascular disease can be reduced. Funding for the program ...
... Dinosaurs squashed them with impunity. Thousands of species that ... And a study based on advanced DNA analysis has shown ... Finally, however, one animal species came along that would ... reverence homo sapiens. Thus was born the human affection ...
... doctor orders for individuals suffering from dry eye condition, a ... composition. According to a study published in Investigative Ophthalmology ... Celsius on the eye and eyelid could be the cause ... study, (Meibomian Lipid Films and the Impact of Temperature) showed ...
Cached Biology News:Boston Medical Center receives grant from Astrazeneca to 'end diabetes' 2Genetic analysis reveals history, evolution of an ancient delicacy -- morels 2Genetic analysis reveals history, evolution of an ancient delicacy -- morels 3Drop in temperature may explain the increase in dry eye suffering 2
(Date:6/2/2015)... Research and Markets( http://www.researchandmarkets.com/research/2b7734/molecular ) has announced ... Market Size, Strategy and Forecasts - 2015 to 2019" ... - Global Market Size, Strategy and Forecasts - 2015 ... use. Hundreds of pages of information including a complete ... Schedules to help understand test pricing in detail. ...
(Date:6/2/2015)... 2015 Cirrascale Corporation ®, ... rackmount computing and storage infrastructure for conventional and ... its high density scale-out, two-in-one video delivery and ... . The high density, two-in-one system supports the ... with Intel® Iris™ Pro graphics P6300 and provides ...
(Date:6/2/2015)... --  BioClinica ® , Inc., a specialty clinical ... David Peters , an accomplished senior finance and accounting ... Financial Officer (CFO) and will be joining BioClinica on ... 25 years of financial and accounting experience with a ... knowledge in all areas of finance, accounting and business ...
(Date:6/2/2015)... Cord Blood Corporation (NYSE: CO ) ("CCBC," the "Company," ... provider of cord blood collection, laboratory testing, hematopoietic stem cell ... Special Committee of the Company,s board of directors (the "Special ... ) Limited as its independent financial advisor, Cleary ... United States legal counsel and Maples & Calder ...
Breaking Biology Technology:Global Molecular Diagnostics Report 2015-2019 - Market Size, Strategy and Forecasts 2Global Molecular Diagnostics Report 2015-2019 - Market Size, Strategy and Forecasts 3Cirrascale® Announces Support for Intel® Xeon® Processor E3-1200 v4 Product Family; Launches Server Offering Optimized for Low Cost-per-Stream Transcoding Applications 2Cirrascale® Announces Support for Intel® Xeon® Processor E3-1200 v4 Product Family; Launches Server Offering Optimized for Low Cost-per-Stream Transcoding Applications 3BioClinica Names David Peters New Chief Financial Officer 2China Cord Blood Corporation's Special Committee Appoints Independent Financial Advisor and Legal Counsel to Evaluate Non-binding "Going Private" Proposal 2China Cord Blood Corporation's Special Committee Appoints Independent Financial Advisor and Legal Counsel to Evaluate Non-binding "Going Private" Proposal 3
... that could be used in novel security devices to ... sensors, according to research published tomorrow (8 April) in ... which are based on a fundamental science discovery in ... to instantly detect the presence of particular molecules, for ...
... Bulletin Board: TBIO), a leading global biotechnology company, announces ... Dana-Farber Cancer Institute, Boston, MA with regard to a ... standard PCR technology enriches mutations in samples where normal ... Mike Makrigiorgos who has demonstrated its effectiveness in enriching ...
... Calif., April 7 Voler Systems ( http://www.volersystems.com ) ... Program" which provides full-service consulting from concept and design ... economic conditions are not deterring Voler from investing in ... needs and reducing time-to-market for new medical devices. During ...
Cached Biology Technology:New security and medical sensor devices made possible by metallic nanostructures 2Transgenomic Completes Licensing Option With Dana-Farber Cancer Institute on Cold-PCR for Enrichment of DNA Mutations 2Transgenomic Completes Licensing Option With Dana-Farber Cancer Institute on Cold-PCR for Enrichment of DNA Mutations 3Transgenomic Completes Licensing Option With Dana-Farber Cancer Institute on Cold-PCR for Enrichment of DNA Mutations 4Voler Systems Continues Investments and Expands Services 2
... cm, is used for vertical slab gel electrophoresis ... The cell is supplied without spacers and combs. ... gaskets, lower buffer chamber, lid with cables, 2 ... buffer dam, casting stand with gaskets, leveling bubble, ...
... PROTEAN II xi cell, 20 cm, is used ... and proteins in agarose gels. The cell is ... a central cooling core with gaskets, lower buffer ... plates, 4 sandwich clamps, upper buffer dam, casting ...
CleanCut agarose is used to prepare genomic DNA plugs for use in pulsed field gel electrophoresis (PFGE) applications. Supplied as a 12 ml solution of 2% agarose....
... minor groove-binding probe for DNA. Binds to ... to AT rich DNA), forming a stable ... than DAPI alone. DAPI is several times ... DNA in agarose gels. It may be ...
Biology Products: