Navigation Links
Researchers discover 2 genetic flaws behind common form of inherited muscular dystrophy
Date:11/11/2012

SEATTLE An international research team co-led by a scientist at Fred Hutchinson Cancer Research Center has identified two genetic factors behind the third most common form of muscular dystrophy. The findings, published online in Nature Genetics, represent the latest in the team's series of groundbreaking discoveries begun in 2010 regarding the genetic causes of facioscapulohumeral muscular dystrophy, or FSHD.

The team, co-led by Stephen Tapscott, M.D., Ph.D., a member of the Hutchinson Center's Human Biology Division, discovered that a rare variant of FSHD, called type 2, which accounts for about 5 percent of cases, is caused by two genetic mutations that together cause the production of muscle-damaging toxins responsible for causing symptoms of this progressive muscle disease.

Specifically, the researchers found that a combination of genetic variants on chromosomes 4 (called DUX4) and 18 (called SMCHD1) can cause type 2 FSHD. The DUX4 variant was first described by the research team in 2010 as a mechanism behind the more common, type 1, version of the disease.

"Many diseases caused by a single gene mutation have been identified during the last several decades, but it has been more difficult to identify the genetic basis of diseases that are caused by the intersection of multiple genetic flaws," Tapscott said. "Recent advances in DNA sequencing made this study possible and it is likely that other diseases caused by the inheritance of multiple genetic variants will be identified in the coming years." Understanding the genetic mechanisms of type 2 FSHD could lead to new biomarker-based tests for diagnosing the disease and could lead to the development of future treatments, Tapscott said.

FSHD affects about half a million people worldwide. Symptoms usually first appear around age 20 and are characterized by a progressive, gradual loss of muscle strength, particularly i
'/>"/>

Contact: Kristen Woodward
kwoodwar@fhcrc.org
206-667-5095
Fred Hutchinson Cancer Research Center
Source:Eurekalert

Page: 1 2

Related biology news :

1. Study by UC Santa Barbara researchers suggests that bacteria communicate by touch
2. UC Santa Barbara researchers discover genetic link between visual pathways of hydras and humans
3. Researchers attempt to solve problems of antibiotic resistance and bee deaths in one
4. UNH researchers find African farmers need better climate change data to improve farming practices
5. Ottawa researchers to lead world-first clinical trial of stem cell therapy for septic shock
6. Researchers uncover molecular pathway through which common yeast becomes fungal pathogen
7. Researchers print live cells with a standard inkjet printer
8. Columbia Engineering and Penn researchers increase speed of single-molecule measurements
9. Researchers reveal how a single gene mutation leads to uncontrolled obesity
10. Researchers discover novel therapy for Crohns disease
11. New paper by Notre Dame researchers describes method for cleaning up nuclear waste
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/27/2014)... number of consumers are willing to pay a premium ... whether they,re getting what the label claims is another ... devising a new way to make sure farms are ... ACS, Journal of Agricultural and Food Chemistry , ... the Bavarian Health and Food Safety Authority and the ...
(Date:8/27/2014)... basic research, a growing focus on translating discoveries ... have earned the Herbert Irving Comprehensive Cancer Center ... NewYork-Presbyterian Hospital an $18 million, five-year Cancer Center ... The grant renews the center,s status as one ... New York City and one of only three ...
(Date:8/27/2014)... Now that health advocates, campaigns against trans-fats have ... additive, they,re taking aim at sugar for its ... and policymakers are still wrangling over the best ... according to an article in Chemical & ... of the American Chemical Society. , In the ...
Breaking Biology News(10 mins):Herbert Irving Comprehensive Cancer Center awarded $18 million grant 2Herbert Irving Comprehensive Cancer Center awarded $18 million grant 3Herbert Irving Comprehensive Cancer Center awarded $18 million grant 4
... BOSTON, MABrigham and Women,s Hospital (BWH) announces the launch ... created research division within the Department of Medicine. The ... network-based, systems biology-driven approach to define the causes of ... information to develop new ways to classify and treat ...
... STANFORD, California 9 July 2012 -- Like their warrior ... efforts to safeguard their countries, this time by sounding an ... Today their efforts received a big boost with the ... Coral Reefs that is supported by over 2,400 scientists, showing ...
... first issue, the online open-access journal mBio ... journals according to Thomson Reuters, which has just released ... the number of times scholarly articles are cited by ... rough measures of the quality or standing of a ...
Cached Biology News:BWH launches a new research division focused on integrating systems biology and medicine 2Scientists join forces in call for action to save coral reefs 2Scientists join forces in call for action to save coral reefs 3American Society for Microbiology's newest journal earns a high impact factor in latest rankings 2
(Date:8/28/2014)... (PRWEB) August 28, 2014 A ... around the world is available from Strategic Consulting, ... companies. “ Industrial Microbiology Market Review, Fourth Edition: ... Market ” (IMMR—4) tracks and compares microbiology test ... North America, Europe and Asia, and forecasts future ...
(Date:8/28/2014)... York, NY (PRWEB) August 28, 2014 ... renewed its long term partnership with PTI Inspection ... provide clients with state of the art leak testing ... of the art instruments currently available. As part of ... new High Voltage Leak Detection Instrument developed ...
(Date:8/27/2014)... (PRWEB) August 27, 2014 In ... through Lawrence Livermore National Security LLC ... develop and deliver a state-of-the-art laser system for ... (ELI Beamlines), under construction in the Czech Republic. ... the laser system, called the " High repetition-rate ...
(Date:8/27/2014)... 27, 2014 The Global and China ... on the current state of the Trifluoroacetic Acid industry ... basic overview of the industry, including definitions, applications and ... market analysis are provided with a focus on history, ... comparison between the international and Chinese situation is also ...
Breaking Biology Technology:2 Billion Industrial Microbiology Tests Conducted for Product Quality and Safety Worldwide 22 Billion Industrial Microbiology Tests Conducted for Product Quality and Safety Worldwide 3Whitehouse Labs Renews Partnership with PTI Inspection Systems 2Whitehouse Labs Renews Partnership with PTI Inspection Systems 3LLNL Synchs up with ELI Beamlines on Timing System 2LLNL Synchs up with ELI Beamlines on Timing System 3Trifluoroacetic Acid Industry (Asia, Europe, North America, ROW) Analysis Report Now Available at ReportsnReports.com 2
... March 27, 2012 Vermillion, Inc. (NASDAQ: ... and operational results for the fourth quarter and full ... Full Year 2011 Operational Highlights In ... diagnostic designed to help differentiate benign from malignant ovarian ...
... March 26, 2012 The L,ORÉAL-UNESCO For Women in ... a week of scientific meetings and debates. , ... International Fellows will be presenting their research at the Pasteur Institute ... at the Institute where the International Fellows can be met individually ...
... massive particles has intrigued physicists for more than 80 years, ... behaviour in conflict with our everyday ideas of what ... now succeeded in shooting a movie which shows the build-up ... is so large (up to 0.1 mm) that you can ...
Cached Biology Technology:Vermillion Reports Fourth Quarter and Full Year 2011 Results 2Vermillion Reports Fourth Quarter and Full Year 2011 Results 3Vermillion Reports Fourth Quarter and Full Year 2011 Results 4Vermillion Reports Fourth Quarter and Full Year 2011 Results 5Vermillion Reports Fourth Quarter and Full Year 2011 Results 6Vermillion Reports Fourth Quarter and Full Year 2011 Results 7Vermillion Reports Fourth Quarter and Full Year 2011 Results 8The 14th Annual L'Oréal-Unesco Awards or Women on Science: From March 26 to March 29, Paris Welcomes and Honours Tomorrow's Scientific Talents 2The 14th Annual L'Oréal-Unesco Awards or Women on Science: From March 26 to March 29, Paris Welcomes and Honours Tomorrow's Scientific Talents 3The 14th Annual L'Oréal-Unesco Awards or Women on Science: From March 26 to March 29, Paris Welcomes and Honours Tomorrow's Scientific Talents 4Single molecules in a quantum movie 2
Human CCL26/Eotaxin-3 MAb (Clone 115002)...
Normal sheep serum collected from healthy normal sheep...
Agarose-ME, 500 g. Suitable for immunoelectrophoresis.Gel point (1.5%): 36 1.5 C, EEO (-mr): 0.16-0.19, Gel strength (1%): > 1000 g/cm2. Category: Nucleotides & Enzymes & Biochemicals, Ultrapure Bio...
Pooled normal sreum with 0.1% sodium azide as preservative...
Biology Products: