Navigation Links
Gene Mutation Linked to Inherited ALS
Date:2/26/2009

Discovery might one day lead to additional treatments, experts say

THURSDAY, Feb. 26 (HealthDay News) -- A new gene has been identified as playing a role in the inherited form of amyotrophic lateral sclerosis, or ALS, say researchers at the University of Massachusetts Medical School and King's College, London.

The discovery, a mutation in the FUS/TLS gene, is the fourth gene linked to the neurological disorder, also known as Lou Gehrig's disease. The finding was reported in the Feb. 27 issue of the journal Science.

"We found a series of mutations in a gene that interacts with biological pathways already implicated in ALS and other neurological diseases, resulting in familial ALS of differing inheritance patterns and varying severity," Dr. Thomas Kwiatkowski, of the Institute for Neurodegenerative Disease at Massachusetts General Hospital and lead author of the report, said in a news release from the hospital.

The discovery "puts us closer to identifying the link between inherited and sporadic ALS as well as to new targets for drug design," he said.

In people with ALS, motor neurons in the central nervous system begin to die, compromising the brain's ability to send signals to the muscles. As the disease progresses, people lose voluntary muscle movement, develop paralysis and eventually die from respiratory failure. About 10 percent of ALS cases are inherited, but the cause of most cases of ALS is unknown.

The researchers discovered the FUS/TLS gene mutation on both copies of chromosome 16 in four family members with ALS who live on a small Cape Verde island. Three other family members also had two mutated copies of FUS/TLS but had not yet reached the age of onset of ALS. Several unaffected family members had a single copy of the mutation. No FUS/TLS mutations were found in a control group of 1,446 North Americans.

Eventually, the researchers found FUS/TLS mutations in other families involved in earlier research efforts, leading to the discovery of 13 different FUS/TLS mutations in 17 families with inherited ALS.

Dr. Robert Brown, the study's senior author, said in the news release that the discovery "will almost certainly lead to new animal- and cell-based models for this disease, which should accelerate efforts to find a therapy for ALS."

More information

The U.S. National Institute of Neurological Disorders and Stroke has more about ALS.



-- Robert Preidt



SOURCE: Massachusetts General Hospital, news release, Feb. 26, 2009


'/>"/>
Copyright©2009 ScoutNews,LLC.
All rights reserved  

Related medicine news :

1. 2 gene mutations linked to most common brain cancers -- and longer survival
2. Genetic Mutations Linked to Deadly Brain Cancer
3. Gene Mutation Increases Drug Toxicity, Rejection Risk in Pediatric Kidney Transplants
4. Gene Mutation Tied to Majority of Cases of Mental Retardation
5. The Bachmann-Strauss Dystonia & Parkinson Foundation: New Study Identifies Gene Mutations as Cause of Dystonia in Amish-Mennonite Families
6. Gene mutations increase risk for aggressive prostate cancer
7. 60 Million Worldwide Carry Heart Disease Mutation
8. Scientists identify new congenital neutropenia syndrome and causative gene mutation
9. Gene Mutation Tied to Inherited Fatal Lung Disease
10. Yeast mimics severity of mutations leading to fatal childhood illness
11. Mutations common to cancer and developmental disorder examined in a novel disease model
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Gene Mutation Linked to Inherited ALS
(Date:5/4/2016)... ... May 04, 2016 , ... Qualitative ... seeks to add a deeper understanding of the program, policy or intervention being ... answers different yet important questions. , In a new brief released today, Reading ...
(Date:5/4/2016)... SCOTTSDALE, AZ (PRWEB) , ... May 04, 2016 ... ... 2016 Annual Technology & Business Conference. The conference opened on Tuesday with Frank ... panel discussion on NCPDP’s PDMP Solution provided a deep dive on NCPDP’s model ...
(Date:5/4/2016)... ... May 04, 2016 , ... The RIDER Institute announces ... of DRACO broad-spectrum antiviral therapeutics. DRACOs have proven effective against all 18 viruses ... 2016 at http://igg.me/at/EndTheVirus and runs for 60 days, we are raising ...
(Date:5/4/2016)... ... May 04, 2016 , ... a2z, Inc. is ... and Canadian Association for Enterostomal Therapy (CAET) will be utilizing powerful and innovative ... to attendees and exhibitors for the 2016 WOCN Society & CAET Joint Conference—which ...
(Date:5/4/2016)... ... ... May kicked off with Melanoma Monday , a multi-agency effort to raise ... encouraging her patients, as well as residents all around Dallas, Cleburne, Irving, and Plano, ... in the future. , The dermatology-specific awareness month ends with “Don’t Fry Day,” established ...
Breaking Medicine News(10 mins):
(Date:5/4/2016)... Research and Markets has ... Myeloma Market and Competitive Landscape Highlights - ...      (Logo: http://photos.prnewswire.com/prnh/20160330/349511LOGO ) , ... Highlights 2016, provides comprehensive insights into Multiple ... Myeloma market valuations and forecast, Multiple Myeloma ...
(Date:5/3/2016)... PUNE, India , May 4, 2016 /PRNewswire/ ... report spreads across 154 pages, profiling 09 key ... It is a professional and in-depth study on ... providing a basic overview of the industry including ... Insulin Needles market analysis is provided for the ...
(Date:5/3/2016)... Pa. , May 3, 2016 ACME ... Jack Whelan and Delaware County ... (naloxone HCI) Nasal Spray in all ACME ... U.S. Centers for Disease Control and Prevention (CDC), naloxone has saved ... when police officers in Delaware County were ...
Breaking Medicine Technology: