Navigation Links
Mutations in genes that modify DNA packaging result in Facioscapulohumeral Muscular Dystrophy
Date:11/11/2012

t the usual FSHD-disease causing DNA deletion but who still lacked repression of the DUX4 code reading.

Dr. Rabi Tawil at the University of Rochester made the clinical diagnosis in these people and established cultures of muscle cells from biopsies. Dr. Richard Lemmers working in van der Maarel's laboratory demonstrated that the chromatin structure was relaxed despite a normal number of repeat units on chromosome 4. With the help of Dr. Michael Bamshad, UW professor of pediatrics, and Dr. Deborah Nickerson, UW professor of genome sciences, Miller and his group sequenced and analyzed the protein coding portions of the genomes of individuals with FSHD caused by this uncommon mechanism.

The researchers discovered that these individuals had causative mutations in the Structural Maintenance of Chromosomes Hinge Domain 1 gene. Mutations in this gene cause decreased levels of the SMCHD1 protein and result in relaxation of the chromatin structure surrounding the muscle cells' DNA allowing toxic DUX4 to be generated.

"The discovery linking mutations in the SMCHD1 gene with FSHD is particularly satisfying," Miller said, 'because the normal form of SMCHD1 has an established role in repressing the reading of portions of the DNA code. SMCHD1 Is involved in silencing one of the two X chromosomes in females and in turning off repetitive elements in other parts of the genome.

Understanding the FSHD-causing mechanism of SMCHD1 mutations, Miller said, suggests ideas for therapeutic strategies to suppress the production of the muscle-damaging DUX4 and for treatments for the more common forms of FSHD.


'/>"/>

Contact: Leila Gray
leilag@uw.edu
206-685-0381
University of Washington
Source:Eurekalert  

Page: 1 2 3

Related biology news :

1. BRG1 mutations confer resistance to hormones in lung cancer
2. Gene mutations cause massive brain asymmetry
3. Interacting mutations promote diversity
4. Mutations in autism susceptibility gene increase risk in boys
5. UMMS researchers isolate gene mutations in patients with inherited amyotrophic lateral sclerosis
6. New gene mutations linked to ALS and nerve cell growth dysfunction
7. Key mutations discovered for most common childhood brain cancer
8. BGI reports the latest finding on NMNAT1 mutations linked to Leber congenital amaurosis
9. Gene mutations linked to most cases of rare disorder -- Alternating Hemoplegia of Childhood
10. New method provides fast, accurate, low cost analysis of BRCA gene mutations in breast cancer
11. Populations survive despite many deleterious mutations
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Mutations in genes that modify DNA packaging result in Facioscapulohumeral Muscular Dystrophy
(Date:9/18/2014)... Wis. No matter how many times it,s ... social, communicating creatures. , But by using ... organisms radically alter their behavior to suit their ... of them are present, and act accordingly. , ... millions, it may change from innocuous to pathogenic, ...
(Date:9/18/2014)... turned its newborn screening program into a model other states ... the first-ever Newborn Screening Quality Award from the March of ... M.P.H., Arizona,s Department of Health Services director, with the award ... policy of full transparency for the length of time it ... lab for analysis, and set a target of having 95 ...
(Date:9/18/2014)... global cycles of carbon and nitrogen comprise all ... and environmental systems have caused imbalances and perturbations ... gases (GHGs). Increased GHGs result in climate changes ... ecosystems, oceans and the atmosphere. Understanding these feedback ... branch of environmental science during the past three ...
Breaking Biology News(10 mins):Researchers study vital 'on/off switches' that control when bacteria turn deadly 2Researchers study vital 'on/off switches' that control when bacteria turn deadly 3March of Dimes honors Arizona with first-ever newborn screening award 2March of Dimes honors Arizona with first-ever newborn screening award 3Greenhouse gas research enters a new era 2
... from the University of Southern Denmark have identified how a ... in a cell,s membrane. Such holes cause high blood pressure, ... medication for high blood pressure. High blood pressure can ... a specific mutated protein. Now the researchers at University of ...
... suffer from the consequences of maternal drug exposure during pregnancy, ... used substances. This motivated the study, published in the ... to decipher the molecular basis of how the major psychoactive ... brain development of the unborn foetus. The study ...
... have engineered an efficient and environmentally friendly catalyst for ... extensively in modern industry to manufacture fertilizer and refine ... element, it is generally not found as the pure ... (H2O) or to carbon in methane (CH4), the primary ...
Cached Biology News:Punctured cell membranes lead to high blood pressure 2Cannabis during pregnancy endangers fetal brain development 2Engineers teach old chemical new tricks to make cleaner fuels, fertilizers 2Engineers teach old chemical new tricks to make cleaner fuels, fertilizers 3Engineers teach old chemical new tricks to make cleaner fuels, fertilizers 4
(Date:9/18/2014)... About POCT POCT, ... clinical laboratory. It helps in making fast clinical ... medication. POCT is gaining popularity due to the ... as diabetes, heart disease, and obesity. It is ... to minimize errors during the diagnosis of patients. ...
(Date:9/18/2014)... Ireland , September 18, 2014 ... and Markets ( http://www.researchandmarkets.com/research/czvg3s/biocompatible ) has ... "Biocompatible Materials - Global Strategic Business ... ,     (Logo: http://photos.prnewswire.com/prnh/20130307/600769) ,This report analyzes ... in US$ Million by the following ...
(Date:9/18/2014)... 18, 2014 Research and Markets ... "Global N-acetylcysteine Industry Report 2014" report to ... Industry Report 2014 is a professional and in-depth ... N-acetylcysteine industry. The report provides a ... applications and industry chain structure. The N-acetylcysteine market ...
(Date:9/18/2014)...  U.S. biotech company Kultevat has strengthened ... technology developed by the Donald Danforth Plant Science ... for applications in production of natural rubber in ... developed under the direction of Roger Beachy , ... of the Danforth Plant Science Center, and is used ...
Breaking Biology Technology:POCT Market in China 2014-2018 2Biocompatible Materials - Global Strategic Business Report 2014 2Biocompatible Materials - Global Strategic Business Report 2014 3Global N-acetylcysteine Industry Report 2014 2Kultevat obtains license of gene switch technology 2
... a provider of single-molecule DNA analysis technology, announced Thursday it ... of brain tumor, known as oligodendroglioma. OpGen, based in Madison, ... and professor of genetics and chemistry at the University of ... , ,Optical mapping, invented by Schwartz, will enable researchers to ...
... investors, and media is a leading indicator, the technology market is ... when he said DEMO 2004 felt "like a bit of the ... were repeated by dozens of attendees who talked to or emailed ... this industry unlike any we've felt in the past 36 months. ...
... to offshore outsourcing as an issue du jour. I ... (an election year at that for America) due to ... future of the U.S. Prominent voices along every point ... Democratic presidential nomination to the Bush Administration and a ...
Cached Biology Technology:OpGen joins UW, Henry Ford Heath in Improving Brain Tumor Treatment 2The Tech Market is Looking Up 2The Tech Market is Looking Up 3The Tech Market is Looking Up 4The Great Offshore Outsourcing Debate 2
... For use with suspension ... RiboCap™ uses vacuum filtration or ... culture media. Compatible with ... available in larger package sizes ...
... Captivate magnetic separator for ... used in conjunction with the ... C-21476) or other magnetic particles ... 96-well microplates. Cell Biology Cell ...
RABBIT ANTI RAT AQUAPORIN 5...
MOUSE ANTI S. NEWPORT SALMONELLA HADAR...
Biology Products: