Forum für Wissenschaft, Industrie und Wirtschaft

Hauptsponsoren:     3M 
Datenbankrecherche:

 

Researchers discover 2 genetic flaws behind common form of inherited muscular dystrophy

12.11.2012
Latest in a series of groundbreaking discoveries
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.
In addition to Tapscott and other Hutchinson Center researchers, other key members of the research team included Daniel G. Miller, M.D., Ph.D., an associate professor of pediatrics at the University of Washington; Rabi N. Tawil, M.D., a professor of neurology at the University of Rochester Medical Center; and Silvère van der Maarel, Ph.D., a professor of medical epigenetics at Leiden University Medical Center in The Netherlands; plus investigators from Raboud University Nijmegen Medical Centre in The Netherlands and Nice University Hospital in France.

Funding for the research came from multiple institutions at the National Institutes of Health (National Institute of Neurological Disorders and Stroke, Clinical and Translational Science Awards Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Human Genome Research Institute and the National Genetics Institute), Friends of FSH Research, the Muscular Dystrophy Association, and the University of Rochester Medical Center Fields Center for FSHD and Neuromuscular Research.

At Fred Hutchinson Cancer Research Center, home to three Nobel laureates, interdisciplinary teams of world-renowned scientists seek new and innovative ways to prevent, diagnose and treat cancer, HIV/AIDS and other life-threatening diseases. The Hutchinson Center's pioneering work in bone marrow transplantation led to the development of immunotherapy, which harnesses the power of the immune system to treat cancer with minimal side effects. An independent, nonprofit research institute based in Seattle, the Hutchinson Center houses the nation's first and largest cancer prevention research program, as well as the clinical coordinating center of the Women's Health Initiative and the international headquarters of the HIV Vaccine Trials Network. Private contributions are essential for enabling Hutchinson Center scientists to explore novel research opportunities that lead to important medical breakthroughs. For more information visit www.fhcrc.org or follow the Hutchinson Center on Facebook, Twitter or YouTube.

Kristen Woodward | EurekAlert!
Further information:
http://www.fhcrc.org

More articles from Life Sciences:

nachricht How Invasive Plants Influence an Ecosystem
28.07.2016 | Albert-Ludwigs-Universität Freiburg im Breisgau

nachricht Perseus translates proteomics data
27.07.2016 | Max-Planck-Institut für Biochemie

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Wie biologische Vielfalt das Ohr fit macht

Göttinger Hörforschung mit neuen Erkenntnissen: Das Ohr setzt Synapsen mit verschiedenen Eigenschaften ein, um unterschiedlich lauten Schall zu verarbeiten. Forschungsergebnisse veröffentlicht in der Fachzeitschrift „Proceedings of the National Academy of Sciences“

Der menschliche Hörsinn verarbeitet einen immensen Bereich an Lautstärken. Wie schafft es das Ohr, etwa über eine Million Schalldruck-Variationen zu...

Im Focus: Ultrakompakter Photodetektor

Der Datenverkehr wächst weltweit. Glasfaserkabel transportieren die Informationen mit Lichtgeschwindigkeit über weite Entfernungen. An ihrem Ziel müssen die optischen Signale jedoch in elektrische Signale gewandelt werden, um im Computer verarbeitet zu werden. Forscher am KIT haben einen neuartigen Photodetektor entwickelt, dessen geringer Platzbedarf neue Maßstäbe setzt: Das Bauteil weist eine Grundfläche von weniger als einem Millionstel Quadratmillimeter auf, ohne die Datenübertragungsrate zu beeinträchtigen, wie sie im Fachmagazin Optica nun berichten. (DOI: 10.1364/OPTICA.3.000741)

Die neuentwickelten Photodetektoren, die weltweit kleinsten Photodetektoren für die optische Datenübertragung, eröffnen die Möglichkeit, durch integrierte...

Im Focus: Self-assembling nano inks form conductive and transparent grids during imprint

Transparent electronics devices are present in today’s thin film displays, solar cells, and touchscreens. The future will bring flexible versions of such devices. Their production requires printable materials that are transparent and remain highly conductive even when deformed. Researchers at INM – Leibniz Institute for New Materials have combined a new self-assembling nano ink with an imprint process to create flexible conductive grids with a resolution below one micrometer.

To print the grids, an ink of gold nanowires is applied to a substrate. A structured stamp is pressed on the substrate and forces the ink into a pattern. “The...

Im Focus: Neues Forschungsnetzwerk für Mikrobiomforschung

Mikroben und Viren haben weitreichenden Einfluss auf die Gesundheit von Mensch und Tier. Die neu gegründete "Austrian Microbiome Initiative" (AMICI) fördert die nationale Mikrobiomforschung und vernetzt MedizinerInnen und ForscherInnen verschiedenster Fachrichtungen zur Nutzung von Synergien.

Bakterien, Archaeen, Pilze, Viren – Milliarden von Mikroorganismen leben in Symbiose in und auf Menschen und Tieren. Diese mikroskopisch kleinen Lebewesen...

Im Focus: The Glowing Brain

A new Fraunhofer MEVIS method conveys medical interrelationships quickly and intuitively with innovative visualization technology

On the monitor, a brain spins slowly and can be examined from every angle. Suddenly, some sections start glowing, first on the side and then the entire back of...

Alle Focus-News des Innovations-reports >>>

Anzeige

Anzeige

IHR
JOB & KARRIERE
SERVICE
im innovations-report
in Kooperation mit academics
Veranstaltungen

Fachkongress zu additiven Fertigungsverfahren am 14. und 15. September in Aachen

28.07.2016 | Veranstaltungen

Rheumatologen tagen in Frankfurt: Mehr Forschung für Rheuma gefordert

28.07.2016 | Veranstaltungen

10. Internationales Hodgkin-Symposium in Köln

28.07.2016 | Veranstaltungen

 
B2B-VideoLinks
Weitere VideoLinks >>>
Aktuelle Beiträge

Neue Pilot-Fertigung für thermoelektrische Module

28.07.2016 | Energie und Elektrotechnik

Flexible Kontrolle über erlernte Lautäußerungen bei Orang-Utans

28.07.2016 | Biowissenschaften Chemie

Im menschlichen Körper schlummert ein potenzieller Lebensretter

28.07.2016 | Biowissenschaften Chemie