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 in the upper body.


'/>"/>

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

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:6/28/2020)... (PRWEB) , ... June 25, ... ... of enterprise software solutions for biopharmaceutical R&D, today announced that it has ... developing innovative, full-length multispecific antibodies (Multiclonics®), to support their translational and clinical ...
(Date:6/25/2020)... ... June 24, 2020 , ... ... and software-driven clinical data services that accelerate drug development, is collaborating with Karyopharm ... XPO1 inhibitor, in hospitalized patients with severe COVID-19. This is the first study ...
(Date:6/23/2020)... MILTON KEYNES, England (PRWEB) , ... June 23, ... ... operations in Africa supporting sustainable healthcare, and Renovagen Ltd, a UK supplier and ... rapid response project to support testing operations in the fight against the COVID-19 ...
Breaking Biology News(10 mins):
(Date:5/28/2020)... (PRWEB) , ... May 28, 2020 , ... ... R&D, today announced the release of Genedata Screener ® 17.0, the latest ... screening data from all in-vitro screening assay technologies. Genedata will host a webinar ...
(Date:5/21/2020)... ... May 21, 2020 , ... ... will cause long-term harm , Contrary to conventional wisdom that says the coronavirus ... finds many companies will emerge from the pandemic commercially weaker, dealing with delays ...
(Date:5/21/2020)... ... May 20, 2020 , ... ... who will serve as the company’s executive vice president of product engineering and ... is disrupting the medical imaging space, bringing more than 24 years of technology ...
(Date:5/15/2020)... ... ... This new service offers clients a way to speak with Subject Matter Experts ... arises. Lachman’s OnCall SMEs have extensive knowledge of a wide range of scientific, technical, ... are available normal business hours Monday through Friday from 9:00 am – 5:00 pm ...
Breaking Biology Technology: