Navigation Links
New Gene for Lou Gehrig's Disease Identified
Date:2/28/2008

Rare TDP-43 mutations expose potential therapeutic target, experts say

THURSDAY, Feb. 28 (HealthDay News) -- Researchers have implicated a new, yet rare, genetic mutation in the development of amyotrophic lateral sclerosis (ALS).

The finding not only exposes a potential therapeutic target for treating the fatal neurodegenerative disease, it also confirms that this particular mutation sets in motion the mechanism that causes many cases of ALS.

The results provide "a link between genetics and [the] pathology that proves that the pathology is important for the disease," said Virginia Lee, a professor of pathology and laboratory medicine at the University of Pennsylvania School of Medicine, in Philadelphia.

The results were published in the Feb. 28 online edition of Science.

ALS, also known as Lou Gehrig's disease, is an incurable motor neuron disorder that affects some 30,000 Americans, according to the ALS Association. From 5 percent to 10 percent of those cases are inherited; the remainder are sporadic. Several genes have been associated with the disease, most notably SOD1, which accounts for about 20 percent of familial cases and 3 percent of sporadic ones.

The gene in the present study, TARDBP, encodes TDP-43, a gene involved in, among other things, RNA processing. In 2006, Lee's group discovered that TDP-43 is a pivotal gene in both ALS and a cognitive disorder called frontotemporal lobar dementia (FTLD).

The question was, were these TDP-43 mutations involved in disease pathology or merely a byproduct of it?

"What we needed was a 'smoking gun,' " said Lee."Can we find mutations in TDP-43 in ALS patients?"

Dr. Christopher Shaw, a professor of neurology and neurogenetics at King's College London, led an international team of researchers to find out.

Shaw studied the TDP-43 gene in 154 families with familial ALS. They discovered one family wi
'/>"/>

Copyright©2008 ScoutNews,LLC.
All rights reserved  

Page: 1 2 3

Related medicine news :

1. Treatment for disease that affects estimated 1 in 2000 children gets them to eat again
2. Specialized Care Essential for Women With Congenital Heart Disease Undergoing Pregnancy
3. Race, insurance status affect access to transplantation and kidney disease treatment
4. Does artificial intelligence help clinicians to recognize atrophic gastritis with thyroid disease?
5. A Once-Daily Oral Drug for Chronic Obstructive Pulmonary Disease That Treats COPD-Related Inflammation Could Achieve Blockbuster Status
6. Adult Stem Cells Help Those With Immune Disorders, Heart Disease
7. Childrens Hospital 1 of 10 pediatric hospitals in US selected to study liver disease in kids
8. The human and economic cost of heart disease in Europe
9. Laser Screen Detects Diseases in Breath
10. USAID Fights Neglected Tropical Diseases
11. Heart Disease Deaths Over-Reported in New York City
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
New Gene for Lou Gehrig's Disease Identified
(Date:7/25/2014)... Mahendra Trivedi and his wife Dahryn Trivedi ... Power’ on Saturday, July 26, 2014. People from all ... transforming event as they will get a chance to ... are left for the commencement of this rare event. ... Dahryn Trivedi (his wife) and Alice Branton will provide ...
(Date:7/25/2014)... Yisrayl Hawkins, Pastor and Overseer of The ... the pot by revealing to the whole world, including even ... Satan, the devil, in his new article. , Yisrayl says ... and carried out by the Catholic Church. He says this ... Inspired Holy Scriptures and replacing it with titles such as ...
(Date:7/25/2014)... Recently, the largest herpes dating website ... that there had been a large increase in the number ... Living with a sexually transmitted disease can be difficult, but ... from all around the world who manage to go on ... many STDs including HSV, HPV, HIV, chlamydia, thrush, syphilis, hepatitis, ...
(Date:7/25/2014)... As the category creator and world leader in healthy chocolate, ... and improve individual lives worldwide through its exclusive and healthy ... successful Austin, Texas based "Xocai Activ Drink" author, is scheduled ... to promote the up and coming mxicorp.com/company/igc Eric Worre engagement ... been a leader in the Network Marketing Profession for over ...
(Date:7/24/2014)... Lawrence, KS (PRWEB) July 25, 2014 ... implant can be affected by the width of the ... to hold the implant. A variety of methods exist, ... and subsequent augmentation techniques. The ridge-split graft is highlighted ... , The Journal of Oral Implantology offers a ...
Breaking Medicine News(10 mins):Health News:Mahendra Trivedi to Host an Online Workshop ‘Consciousness is Power’ 2Health News:Mahendra Trivedi to Host an Online Workshop ‘Consciousness is Power’ 3Health News:Yisrayl Hawkins Says You Have Been Tricked Into Worshipping Satan in New Article 2Health News:The Number of People Living With HSV and HPV Greatly Increased- Survey on PositiveSingles.com 2Health News:Austin, Texas Based "Xocai Activ Drink" Author, Adam Paul Green, to Visit Niigata Japan to Promote mxicorp.com/company/igc Eric Worre Speaking Engagement 2Health News:Austin, Texas Based "Xocai Activ Drink" Author, Adam Paul Green, to Visit Niigata Japan to Promote mxicorp.com/company/igc Eric Worre Speaking Engagement 3Health News:Austin, Texas Based "Xocai Activ Drink" Author, Adam Paul Green, to Visit Niigata Japan to Promote mxicorp.com/company/igc Eric Worre Speaking Engagement 4Health News:A Comparison of Graft Techniques for the Alveolar Ridge Prior to Oral Implant 2Health News:A Comparison of Graft Techniques for the Alveolar Ridge Prior to Oral Implant 3
... Pediatric cancer researchers at The Children,s Hospital of Philadelphia ... medulloblastoma, a type of brain tumor typically found in ... of this cancer, and holds intriguing clues to gene ... for future therapies. The most common cancerous brain ...
... HealthDay Reporter , THURSDAY, Dec. 16 (HealthDay News) ... Thursday in the latest legal challenge to the constitutionality of ... -- that nearly all Americans must carry health insurance or ... in Virginia sided with that state,s attorney general, who contended ...
... (ACP) today made a guide to help inform consumers about ... Consumer Guide to Understanding Health System Reform is an ... a way that clearly explains what the law has changed, ... take effect. It was developed by ACP and AARP, ...
... Reporter , WEDNESDAY, Dec. 15 (HealthDay News) -- U.S. Food ... new look at data that may indicate potential safety problems ... ruled in 2009 that mercury used in so-called amalgam dental ... science is and if there are gaps," said the panel,s ...
... , THURSDAY, Dec. 16 (HealthDay News) -- A new U.S. ... largely through sodas. And the more caffeine they consumed, the ... Medical Center surveyed the parents of more than 200 children, ... pediatric clinic. The parents were asked about the types and ...
... but an important one: The number of babies who die ... percent on New Year,s Day. The suspected reason? Alcohol consumption ... Phillips of the University of California, San Diego, the study ... is published in the journal Addiction . The spike, ...
Cached Medicine News:Health News:CHOP experts collaborate in gene survey of childhood brain cancer; intriguing clues found 2Health News:Court Fight Over Health-Care Reform Shifts to Florida 2Health News:Court Fight Over Health-Care Reform Shifts to Florida 3Health News:Court Fight Over Health-Care Reform Shifts to Florida 4Health News:FDA Panel Calls for Safety Review of Mercury in Dental Fillings 2Health News:FDA Panel Calls for Safety Review of Mercury in Dental Fillings 3Health News:SIDS spikes on New Year's Day 2
(Date:7/24/2014)... Mass. , July 24, 2014 Decision ... pulmonologists in the EU5 countries ( France ... , Spain and the ... positive view of the first once-daily long-acting beta2 agonist/inhaled ... expect robust uptake of Relvar as a first-line LABA/ICS ...
(Date:7/24/2014)... , July 24, 2014 Boston Children,s ... Tomorrow (#PedInno14), will feature an "Innovation Tank" – ... an opportunity to pitch their business or product solution ... funding and feedback on how to accelerate the innovation ... occurring the morning of Friday, October 31, will be ...
(Date:7/24/2014)... 2014  To help health care organizations better ... impact patient care and the bottom line, Novation ... "Innovations in Cardiovascular Devices."  The ... details on promising new technologies that can help ... these options impact the supply chain.   According to ...
Breaking Medicine Technology:Surveyed EU5 Pulmonologists Expect that Relvar, the First Once-Daily LABA/ICS FDC, Will Experience Healthy Uptake in Asthma 2Surveyed EU5 Pulmonologists Expect that Relvar, the First Once-Daily LABA/ICS FDC, Will Experience Healthy Uptake in Asthma 3Taking on Tomorrow to Feature "Innovation Tank" Pitch Opportunity for Aspiring Pediatric Health Care Entrepreneurs 2Taking on Tomorrow to Feature "Innovation Tank" Pitch Opportunity for Aspiring Pediatric Health Care Entrepreneurs 3New Novation CV Watch Shows Recent Technology Innovations Could Drive Cardiovascular Product Costs Up by as Much as 35 Percent 2New Novation CV Watch Shows Recent Technology Innovations Could Drive Cardiovascular Product Costs Up by as Much as 35 Percent 3
... reference laboratory and a worldwide leader in ... an extensive test menu of highly complex ... anatomic pathology. Owned by the University of ... half of the nation's university teaching hospitals ...
... national reference laboratory and a worldwide leader ... offers an extensive test menu of highly ... and anatomic pathology. Owned by the University ... than half of the nation's university teaching ...
... is a national reference laboratory and a ... development. ARUP offers an extensive test menu ... in clinical and anatomic pathology. Owned by ... include more than half of the nation's ...
... ARUP Laboratories is a national reference ... laboratory research and development. ARUP offers an ... unique medical tests in clinical and anatomic ... ARUP Laboratories' clients include more than half ...
Medicine Products: