HOME >> BIOLOGY >> NEWS
Scientists identify a new kind of genetic problem in muscular dystrophy

A newly identified genetic problem underlies a common neuromuscular disorder called facioscapulohumeral muscular dystrophy (FSHD), scientists say. In a new study, they show that deletion of repetitive DNA sequences in people with this disorder allows nearby genes to go into overdrive. The finding solves a decade-old riddle about the cause of this disorder and may ultimately lead to the first effective treatments.

The study found that abnormally short strings of repeated DNA sequences on chromosome 4 interfere with the function of a protein complex that controls nearby genes. This leads to over-activity of several genes that may play a role in the disorder. This type of genetic problem has never before been identified in a human disease. The study was funded in part by the National Institute of Neurological Disorders and Stroke (NINDS) and appears in the August 9, 2002, issue of Cell.*

Scientists first linked the short strings of DNA in this region to FSHD in 1992. People with FSHD typically have fewer than 11 copies of this nucleic acid sequence, called D4Z4, due to a deletion of part of the chromosome. In contrast, people without the disorder usually carry between 11 and 150 copies of the sequence. People with a very small number of copies (three or fewer) have severe disease symptoms that begin in childhood, while those with several more copies typically have milder symptoms that begin in the teens or early adulthood. However, until now, researchers have been unable to determine exactly how the number of DNA sequences influences the disease.

FSHD is the third most common inherited neuromuscular disorder, affecting one in every 20,000 people (only Duchenne muscular dystrophy and myotonic dystrophy are more common). People with FSHD have progressive muscle degeneration that primarily affects the face, shoulder blades, and upper arms, although other muscles also deteriorate. Despite intensive efforts, researchers have been unable t
'"/>

Contact: Natalie Frazin or Paul Girolami
301-496-5751
NIH/National Institute of Neurological Disorders and Stroke
8-Aug-2002


Page: 1 2 3

Related biology news :

1. Scientists to prototype cyberinfrastructure for research and education access to ocean observatories
2. Scientists sequence genome of kind of organism central to biospheres carbon cycle
3. Scientists find nanowires capable of detecting individual viruses
4. Scientists discover potential new way to control drug-resistant bacteria
5. Scientists explore genome of methane-breathing microbe
6. Scientists decipher genetic code of biothreat pathogen
7. Stuck on you: Scientists lay bare secrets of bacterial attachment proteins
8. Scientists discover proteins involved in spread of HIV-1 infection
9. Scientists fear new Ebola outbreak may explain sudden gorilla disappearance
10. Scientists reinvent DNA as template to produce organic molecules
11. Scientists visualise cellular handmaiden that restores shape to proteins

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:8/5/2020)... ... , ... Regenative Labs has received approval from the Centers for Medicare & ... first Wharton’s jelly allografts to be assigned a Q code and be approved for ... Wharton’s jelly allograft product to be recognized as a 361 HCT/P by CMS regulated ...
(Date:7/18/2020)... ... July 16, 2020 , ... A study has been published ... Neoasis™ active noise control device to attenuate typical noises in a simulated neonatal ... the alarm sounds from patient monitors, ventilators and other bedside devices that would ...
(Date:7/2/2020)... ... July 01, 2020 , ... AltruBio Inc. http://www.altrubio.com ... a biologic for the treatment of steroid-refractory acute graft-versus-host disease (SR-aGVHD), at European ... J Martin of the Fred Hutchinson Cancer Research Center, this single-arm, open-label Phase ...
Breaking Biology News(10 mins):
(Date:8/12/2020)... FARMS, Mich. (PRWEB) , ... August 12, 2020 ... ... Consulting Group, Inc. (EMMA International), a global leader in FDA compliance consulting ... of the nation’s fastest-growing private companies. The list represents a unique look at ...
(Date:8/3/2020)... (PRWEB) , ... August 03, 2020 , ... ... collection, today announced Jim Corrigan, President and CEO has been named one of ... broad cross-section of industry sectors, PharmaVoice 100 honorees are selected based on how ...
(Date:7/31/2020)... ... July 29, 2020 , ... R3 Stem Cell International is ... $3950. With 50 million stem cells total, patients may choose which extremities they would ... for arthritic joints (BMC Musculoskelet Disord. 2016). At R3 International, umbilical cord tissue is ...
(Date:7/31/2020)... ... July 29, 2020 , ... ... transmitter systems that can be configured to drive Klystrons, TWTs, IOTs, and magnetrons. ... drive one or two switches in a push-pull configuration; yielding fast fall time ...
Breaking Biology Technology:
Cached News: