Navigation Links
A Long-Awaited Mouse Offers a New Animal Model for FSH Muscular Dystrophy
Date:4/4/2013

definitive mouse model based on a genetic unit called D4Z4. Normally, people have ten or more of these units, repeated one after the other near the tip of chromosome 4. The majority of FSHD patients, in contrast, have fewer than ten.

The D4Z4 unit contains a gene called DUX4, which is toxic to muscle cells. In a series of landmark studies that unfolded over the past several years, an international team discovered that DUX4 is normally only expressed during embryonic development and in the male germline (in stem cells that give rise to sperm). DUX4 is not supposed to be active in other tissues, and the D4Z4 units act like bricks in a firewall, preventing the information in the DUX4 gene from getting out.

In FSHD patients, however, the reduced number of D4Z4 weakens the firewall, allowing DUX4 to be abnormally expressed in adult muscle in a quite remarkable pattern; only a small subset of muscle cell nuclei expresses abundant levels of DUX4. The result is devastating, as skeletal muscles degenerate, typically in the face (facio-), shoulder blades (scapula-) and upper arms (humeral), the anatomical areas initially affected that gave rise to the name of this dystrophy. The weakened muscles make it difficult for patients to blink or smile, or raise their arms overhead. FSHD can also affect leg and hip muscles, leading to falls, broken bones and dependence on a scooter or wheelchair. Some patients endure hearing loss and/or abnormalities of blood vessels in the back of the eye.

Around 500,000 people have FSHD worldwide. It is among the three most common muscular dystrophies, and between one and two percent of the general population carries a genetic risk factor linked to FSHD.

The newly published mouse model contains 2.5 copies of the D4Z4 unit, a truncated number comparable to that seen in human FSHD patients. A second line of mice was created with 12.5 D4Z4 units, corresponding to an unaffected person. Both mouse models had high levels
'/>"/>

Source: PRWeb
Copyright©2012 Vocus, Inc.
All rights reserved

Page: 1 2 3 4 5

Related biology technology :

1. University of Colorado Cancer Center Study Shows that Bitter Melon Juice Prevents Pancreatic Cancer in Mouse Models
2. The Veterinary Bioscience Institute Announces a Mouse Surgery Webinar Series
3. Kymab Announces Launch of Kymouse HK
4. SPX-106T Arrests Development of Atherosclerotic Plaques in Mouse Model of Cardiovascular Disease
5. A mouse model brings new perspectives on Lafora disease
6. Neighborhood Smiles of Green Bay Offers a New Approach to the Cavity Epidemic
7. Bed Bugs Get Family Throwing Nearly All Their Possessions, My Cleaning Offers Help With Complimentary Samples of Non-Pesticide Bed Bug Bully
8. Ag-Biotech Offers Male Sterility Locus Marker Services for Breeding Onions
9. Green Rust Remover Offers Complimentary Samples to Rust Contractors, My Cleaning Products Affirms It Could Cut Expenses Up to 50 Percent
10. Life Technologies Offers New Rapid DNA Platform
11. Three-Step Rust Removal With a Non-Invasive Rust Remover Published by My Cleaning Products, MCP Offers Sample of the Product
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/20/2014)... Mapp Biopharmaceutical,s valiant effort to produce ... fight the Ebola outbreak will make the public ... of pharmaceuticals can be, according to Kalorama Information.  ... some may be taken aback by the three-month ... knowledge are well aware of the complex issues ...
(Date:10/20/2014)... Oct. 20, 2014 Asterias Biotherapeutics, Inc. ... has signed a Notice of Grant Award (NGA) ... effective October 1, 2014.  The NGA provides for ... the release of additional grant funds pursuant to ... for clinical development of Asterias, product, AST-OPC1. The ...
(Date:10/20/2014)... VIENNA , October 20, 2014 ... of gastrointestinal (GI) disorders and the delivery of care ... liver diseases and worrying inequalities in the provision of ... survey, which was commissioned by United European Gastroenterology (UEG), ... greater political and public awareness of the burden of ...
(Date:10/20/2014)... PureTech , a science and technology development ... today the closing of a $55 million growth ... a $120 Billion group of funds. The funding ... forward and to advance new healthcare related products ... really go for the big ideas that can ...
Breaking Biology Technology:Kalorama: ZMapp Highlights Need For Faster Biopharmaceutical Production 2Kalorama: ZMapp Highlights Need For Faster Biopharmaceutical Production 3Asterias Biotherapeutics Announces Notice of Grant Award with CIRM for Phase 1/2a Clinical Trial of AST-OPC1 in Complete Cervical Spinal Cord Injury 2Asterias Biotherapeutics Announces Notice of Grant Award with CIRM for Phase 1/2a Clinical Trial of AST-OPC1 in Complete Cervical Spinal Cord Injury 3Asterias Biotherapeutics Announces Notice of Grant Award with CIRM for Phase 1/2a Clinical Trial of AST-OPC1 in Complete Cervical Spinal Cord Injury 4Major Survey Reveals Changing Trends and Inequalities in Healthcare Provision for Gastrointestinal Disorders Across Europe 2Major Survey Reveals Changing Trends and Inequalities in Healthcare Provision for Gastrointestinal Disorders Across Europe 3Major Survey Reveals Changing Trends and Inequalities in Healthcare Provision for Gastrointestinal Disorders Across Europe 4Major Survey Reveals Changing Trends and Inequalities in Healthcare Provision for Gastrointestinal Disorders Across Europe 5PureTech Announces Expansion with Oversubscribed $55M Funding Round 2PureTech Announces Expansion with Oversubscribed $55M Funding Round 3PureTech Announces Expansion with Oversubscribed $55M Funding Round 4PureTech Announces Expansion with Oversubscribed $55M Funding Round 5PureTech Announces Expansion with Oversubscribed $55M Funding Round 6
... 23, 2011 The Clearity Foundation , ... information to women with ovarian cancer, today announced ... a new position for the organization. The Executive ... as it increases its capacity to support more ...
... At least one dengue vaccine could be licensed within ... the development process for multiple dengue vaccine candidates in ... the necessary testing, clinical trial design, and licensure, a ... number of important issues have been identified for regulatory ...
... from North Carolina State University have developed a ... in microfluidic devices, by using liquid metal. Microfluidic ... a wide variety of applications, from testing minute ... "By making it easier to incorporate electrodes into ...
Cached Biology Technology:The Clearity Foundation Hires Hillary Theakston as Executive Director 2The Clearity Foundation Hires Hillary Theakston as Executive Director 3Capacity of developing country NRAs key to accelerated introduction of upcoming dengue vaccines 2Capacity of developing country NRAs key to accelerated introduction of upcoming dengue vaccines 3Liquid metal key to simpler creation of electrodes for microfluidic devices 2
(Date:10/17/2014)... critical and pertinent for practicing physicians and clinicians given ... The Journal, Disaster Medicine and Public Health Preparedness ... Public Health, to surround the public, medical professionals and ... , On October 17, the journal published ... was prepared by Dr. Eric Toner, internist and emergency ...
(Date:10/16/2014)... Institute of Marine Science have received a 3-year, ... identify the streams and wetlands most vulnerable to ... local governments and citizens conserve these important ecosystems. ... of tidal-marsh observations first gathered by VIMS scientists ... can today,s researchers accurately map the slow but ...
(Date:10/16/2014)... women experienced improvements in vaginal atrophy, with no ... after 12 weeks of daily 10 milligram (mg) ... supplement previously shown to help relieve certain menopause ... reported in a poster at the North American ... "These data documented improved vaginal epithelium, without significant ...
Breaking Biology News(10 mins):EPA grant will help localities conserve headwater wetlands 2EPA grant will help localities conserve headwater wetlands 3S-equol supplements associated with improved measures of reproductive health in postmenopausal women 2
... 2012  The board of directors of Westlake Chemical Corporation (NYSE: ... 18.75 cents per share, an increase of over 150% from ... of 2012. The increased dividend will be payable on September 12, ... This is the 32nd successive quarterly dividend that Westlake ...
... the size of their poison glands to potential predators, finds ... Frontiers in Zoology . The brighter the colour, the ... different animals to warn potential predators that they are poisonous. ... which predators quickly learn to avoid. Paper wasps have conspicuous ...
... certain disease mechanisms, illness progression and response to new ... such as nematodes, fruit flies or zebra fish. ... of many individual animals to detect mutants worthy of ... system that uses artificial intelligence and cutting-edge image processing ...
Cached Biology News:Artificial intelligence helps detect subtle differences in mutant worms 2Artificial intelligence helps detect subtle differences in mutant worms 3Artificial intelligence helps detect subtle differences in mutant worms 4
... DNA polymerase is an antibody-mediated ... both conventional and real-time PCR ... at a concentration of 5 ... 250 units polymerase, 1.25 ml ...
MAb to Mouse MHC Class I H-2Kd...
... GELase™ Agarose Gel-Digesting Preparation contains a ... for simple, quantitative recovery of intact DNA ... agarose gels following electrophoresis in TAE, TBE, ... be digested directly in the TAE, TBE, ...
... GELase™ Agarose Gel-Digesting Preparation contains a unique ... simple, quantitative recovery of intact DNA and ... gels following electrophoresis in TAE, TBE, MOPS, ... digested directly in the TAE, TBE, MOPS, ...
Biology Products: