Navigation Links
Research team discovers genes and disease mechanisms behind a common form of muscular dystrophy
Date:1/12/2012

SEATTLE Continuing a series of groundbreaking discoveries begun in 2010 about the genetic causes of the third most common form of inherited muscular dystrophy, an international team of researchers led by a scientist at Fred Hutchinson Cancer Research Center has identified the genes and proteins that damage muscle cells, as well as the mechanisms that can cause the disease. The findings are online and will be reported in the Jan. 17 print edition of the journal Developmental Cell.

The discovery could lead to a biomarker-based test for diagnosing facioscapulohumeral muscular dystrophy (FSHD), and the findings have implications for developing future treatments as well as for cancer immunotherapies in general.

The work establishes a viable roadmap for how the expression of the DUX4 gene can cause FSHD. Whether this is the sole cause of FSHD is not known; however, the latest findings "are about as strong of evidence as you can get" of the genetic link, said corresponding author Stephen Tapscott, M.D., Ph.D., a member of the Hutchinson Center's Human Biology Division.

Tapscott and colleagues sought answers to the questions about what the DUX4 protein does both normally in the body and in the FSHD disease process. In the latest study, they identified that the DUX4 protein regulates many genes that are normally expressed in the male germ line but are abnormally expressed in FSHD muscle. Germ line cells are inherited from parents and passed down to their offspring.

"This study is a significant step forward by solidifying that the DUX4 transcription factor causes this disease, while offering a number of viable mechanisms for why the muscle is damaged," Tapscott said. Transcription factors are tools that cells use to control gene expression. Genes that are "turned on" in the body are "transcribed," or translated, into proteins.

Now that scientists know that targets for DUX4 are expressed in skeletal muscle, an antibod
'/>"/>

Contact: Dean Forbes
dforbes@fhcrc.org
206-667-2896
Fred Hutchinson Cancer Research Center
Source:Eurekalert

Page: 1 2

Related biology news :

1. Wistar Institute researcher receives New Innovator award from NIH
2. NC State researchers get to root of parasite genome
3. White Mountain Research Station to host climate change conference
4. Stevens awarded $1M for advanced biofuels research
5. Researchers find animal with ability to survive climate change
6. Researchers find an essential gene for forming ears of corn
7. Researchers note differences between people and animals on calorie restriction
8. Researcher working on destruction of chemical weapons
9. Researchers study acoustic communication in deep-sea fish
10. Researchers discover that growing up too fast may mean dying young in honey bees
11. The Rett Syndrome Research Trust launches operations
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/28/2014)... conserve biodiversity and more action is needed to ensure ... say. , Published in PLOS ONE , researchers ... Exeter, used meta-analysis - combining results from different studies ... research into these areas, to determine whether they actually ... Biological Sciences, said protecting an area from human exploitation ...
(Date:8/27/2014)... Wis. The mechanical force that a single fungal cell ... vanishingly small, but it plays a heavy role in setting ... In fact, it may not be too much of a ... land without the ability to respond to the touch of ... An, a professor of agronomy at the University of Wisconsin-Madison. ...
(Date:8/27/2014)... in understanding the mysteries of the human genome was ... provide the most detailed comparison yet of how the ... , The research, appearing August 28 in in ... encoded in the three species, genomes is "read out," ... chromosomes. , The results add billions of entries to ...
Breaking Biology News(10 mins):Protected areas proven to protect biodiversity 2A touching story: The ancient conversation between plants, fungi and bacteria 2A touching story: The ancient conversation between plants, fungi and bacteria 3Encyclopedia of how genomes function gets much bigger 2Encyclopedia of how genomes function gets much bigger 3Encyclopedia of how genomes function gets much bigger 4
... (May 24, 2010) The timing of umbilical cord clamping ... suggest researchers at the University of South Florida,s Center of ... umbilical cord for a slightly longer period of time allows ... infant and, with that critical period extended, many good physiological ...
... , WALL, N.J. , May 24 BIO-key ... identification solutions, today announced that Evidian has integrated BIO-key,s biometric software ... deployed this biometric identification solution at two major pharmaceutical companies. , ... (Logo: http://www.newscom.com/cgi-bin/prnh/20050509/BIOKEYLOGO ...
... Israel Current research suggests that T helper-type ... actual inhibit the development of experimental immune encephalomyelitis (EAE), ... Th17 cells. The related report by Wildbaum et ... high CD4 + T cells restrain ...
Cached Biology News:Do we clamp the umbilical cord too soon? 2Do we clamp the umbilical cord too soon? 3BIO-key(R) Biometric Identification Now Incorporated Into Evidian Enterprise Single Sign-On Solution 2BIO-key(R) Biometric Identification Now Incorporated Into Evidian Enterprise Single Sign-On Solution 3BIO-key(R) Biometric Identification Now Incorporated Into Evidian Enterprise Single Sign-On Solution 4When helper cells aren't helpful 2
(Date:8/27/2014)... NEW YORK , Aug. 27, 2014 ... market research report is available in its ... Market 2014-2018 http://www.reportlinker.com/p02316661/Global-Biodegradable-Packaging-Materials-Market-2014-2018.html ... Biodegradable materials are materials that are readily ... packaging differs from conventional non-degradable packaging in ...
(Date:8/27/2014)... (PRWEB) August 27, 2014 The Global ... in-depth study on the current state of the Trifluoroacetic ... provides a basic overview of the industry, including definitions, ... Chinese domestic market analysis are provided with a focus ... market. A comparison between the international and Chinese situation ...
(Date:8/27/2014)... 27, 2014  Lisa Kulik saw fireworks for the ... holiday, thanks to a groundbreaking retinal implant co-invented by ... clinician-researcher at the University of Southern California (USC) Eye ... Peoria, Ariz. resident who has retinitis pigmentosa, ... sight. On June 2, she became the first person ...
(Date:8/27/2014)... 2014 Guggenheim Securities, the investment banking and ... hiring of veteran equity analyst Charles "Tony" Butler as ... will focus on the biotech/biopharma sector. " ... experience and a broad network of relationships in his ... and Head of Equities at Guggenheim Securities. "His insights ...
Breaking Biology Technology:Global Biodegradable Packaging Materials Market 2014-2018 2Global Biodegradable Packaging Materials Market 2014-2018 3Global Biodegradable Packaging Materials Market 2014-2018 4Global Biodegradable Packaging Materials Market 2014-2018 5Global Biodegradable Packaging Materials Market 2014-2018 6Global Biodegradable Packaging Materials Market 2014-2018 7Trifluoroacetic Acid Industry (Asia, Europe, North America, ROW) Analysis Report Now Available at ReportsnReports.com 2USC Eye Institute ophthalmologists implant first FDA-approved Argus II retinal prosthesis in western United States 2USC Eye Institute ophthalmologists implant first FDA-approved Argus II retinal prosthesis in western United States 3USC Eye Institute ophthalmologists implant first FDA-approved Argus II retinal prosthesis in western United States 4USC Eye Institute ophthalmologists implant first FDA-approved Argus II retinal prosthesis in western United States 5Guggenheim Securities Hires Analyst Charles "Tony" Butler to Expand Healthcare Coverage 2
... Patients Achieved an Objective Tumor Response by End of ... Inc. (Nasdaq: PPHM ) today reported that ... endpoint in the first stage of its ongoing Phase ... cancer (NSCLC). The open-label, Simon two-stage study is ...
... Bulletin Board: GOVX), an Atlanta-based, publicly traded,biopharmaceutical company developing ... and other infectious agents, today,announced that its Corporate Presentation ... webcast live by Thomson Reuters. The Conference will be ... February 9 and 10, 2009. , ...
... Wis., Feb. 4 Mach One Corporation (Pink Sheets: ... develops biotechnology based solutions that produce positive, long term ... that it has signed a definitive agreement to acquire ... company that supplies ingredients to the food, feed and ...
Cached Biology Technology:Peregrine Pharmaceuticals' Bavituximab Achieves Primary Endpoint in First Stage of Phase II Lung Cancer Study 2Peregrine Pharmaceuticals' Bavituximab Achieves Primary Endpoint in First Stage of Phase II Lung Cancer Study 3Peregrine Pharmaceuticals' Bavituximab Achieves Primary Endpoint in First Stage of Phase II Lung Cancer Study 4GeoVax to Webcast Its Presentation at the BIO CEO & Investor 2009 Conference 2GeoVax to Webcast Its Presentation at the BIO CEO & Investor 2009 Conference 3Mach One Corporation Signs Definitive Agreement to Acquire Ceres Organic Harvest, Inc. 2
... HRP Stabilizing Diluent (MOPS Buffered) has been ... Peroxidase conjugates in solution. HRP Stabilizer ... maintains the conformation of the antibody or ... Product is filtered at 0.2 microns., ,Contents: ...
... products feature a dual strength adhesive system which ... use. The adhesives on either side of the ... adheres to the glass has an easy release ... coverslip, forms a stronger bond. This means that ...
... Life Science FLA-8000 Fluorescent Image Analyzer features ... single laser imaging system. This powerful new ... with fluorescent dyes or radioisotopes at resolutions ... laboratories. Speed, image quality and flexibility make ...
...
Biology Products: