Navigation Links
A gene for Lou Gehrig's disease and frontotemporal dementia identified
Date:9/21/2011

Frontotemporal dementia and amyotrophic lateral sclerosis, also known as Lou Gehrig's disease -- two fatal neurodegenerative disease with distinct symptoms -- are triggered by a common mutation in many cases, according to researchers who say they have identified the mutated gene.

In the study, reported in the September 21 online issue of Neuron, the scientists described the discovery of a genetic mutation that is accountable for almost 12 percent of familial FTD and more than 22 percent of familial ALS samples studied.

They also report that the defect is the strongest genetic risk factor found to date for the more common, non-inherited, sporadic forms of these diseases. It was found in 3 percent of sporadic FTD and 4 percent of sporadic ALS samples in the largest clinical patient series.

The study was led by scientists at the Mayo Clinic in Florida, in collaboration with researchers at UCSF, the University of British Columbia and UCLA. The finding emerged from the identification and study of a family stricken by both ALS and FTD, reported last year. In that study, led by the UCSF scientists and published in the Journal of Neurology, Neurosurgery and Psychiatry, the researchers honed in on the region in which the gene was located.

"Both clinically and at the molecular level this discovery is going to significantly improve our understanding of these diseases," said co-author Adam Boxer, MD, PhD, of the UCSF Memory and Aging Center, the lead author on the 2010 paper. The discovery makes it possible to develop a diagnostic test for the mutation, as well as to create animal models that may be used to help unravel the molecular mysteries connecting the mutation to the diseases, he said.

In the current study, a detailed molecular genetic characterization of the family that Boxer described was done in the laboratory of senior author Rosa Rademakers, PhD, from the Mayo Clinic. She and colleagues identified the gene and the specific mutation within it.

The mutation consists of from hundreds to thousands of extra copies of a six-letter DNA sequence GGGGCC strung end to end within a region of human chromosome nine. The mutation occurs within a gene of unknown function called C9ORF72.

After identifying the mutation, the Mayo researchers searched for it in DNA from other patients with both familial and sporadic forms of the diseases, where they found the strong associations.

FTD is characterized by disturbances in decision making, language skills, behavior and emotional expression, and is as common as Alzheimer's disease in people younger than 65, according to Boxer. ALS is a neuromuscular disease, leading to muscle paralysis and respiratory failure, often within three to five years. However, it is not unusual for patients diagnosed with one of the two diseases to exhibit symptoms of the other.

Since 2006, six separate groups have reported evidence for a genetic link between the disorders and the same chromosomal region. In the study led by Boxer last year, the researchers described clinical aspects of the disease within the family, and homed in more closely to the gene than others had.

The pattern of protein deposition in the brains of family members in the study may eventually shed light on common aspects of the neurodegenerative process that occurs in both diseases, Boxer said.

There is only one standard medical treatment for ALS, riluzole, which extend life for about six months, he said.

There is no known effective treatment to slow FTD. However, neurologists have generally become much better at recognizing the degenerative disorder, according to Boxer.

Boxer and Bruce Miller, MD, the director of the UCSF Memory and Aging Center and a co-author of both studies, are leaders in FTD research, diagnosis and patient care.

"Ten years ago some neurologists did not acknowledge the existence of FTD," Boxer says. "Today we are much better at diagnosing the disease, although sometimes it still takes an expert to distinguish it from Alzheimer's or from psychiatric disorders.

"We're actively trying to develop treatments for FTD, and we believe this discovery will pave the way for major advances in these efforts."

The researchers used a technique called linkage analysis to narrow the search for the gene by comparing affected and unaffected family members. Another group of scientists -- reporting in the same online edition of Neuron on the same gene -- found that C9ORF72 emerged as being significantly associated with FTD and ALS in a genome-wide scan of patients in Finland.


'/>"/>

Contact: Jennifer O'Brien
jennifer.obrien@ucsf.edu
415-502-6397
University of California - San Francisco
Source:Eurekalert  

Related medicine news :

1. Continued treatment for lupus may boost survival of those patients with end-stage kidney disease
2. Global Toll of Non-Communicable Diseases -- $47 Trillion by 2030
3. The prevention of lifestyle diseases has finally reached the top table of the United Nations
4. U.N. Summit Seeks to Tame Non-Communicable Diseases
5. T cells making brain chemicals may lead to better treatments for inflammation, autoimmune diseases
6. Sickle cell trait is not risk factor for kidney disease
7. Engineers probe mechanics behind rapid-aging disease
8. Separating a cancer prevention drug from heart disease risk
9. High Cholesterol Might Be Linked to Alzheimers Disease
10. High-fat diet and lack of enzyme can lead to heart disease in mice
11. Mayo Clinic teams with glowing cats against AIDS, other diseases
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
A gene for Lou Gehrig's disease and frontotemporal dementia identified
(Date:1/17/2017)... ... January 17, 2017 , ... For breast cancer clinicians ... (SABCS) or those who desire a more intimate review and analysis of its highlights, ... Bench to Bedside—is being offered by Imedex on February 4, 2017 in Chicago. Chaired ...
(Date:1/17/2017)... ... 17, 2017 , ... Healthful Balance announces the national release ... operated by Ed Stroup, was created to offer the highest quality vitamins and ... customer service. Healthful Balance products can be purchased online through their website, or ...
(Date:1/17/2017)... ... January 17, 2017 , ... Kevin Harrington (one of the ... be featuring DRTV campaigns regarding the topic of Beauty and Personal Care. ... of themselves. What better way to commit to these changes than beginning with personal ...
(Date:1/17/2017)... Florida (PRWEB) , ... January 17, 2017 , ... ... City, a new 21st century approach to infusing high speed technology into the ... area exclusively dedicated to the advancement of healthcare and wellness in a yet-to-be-named, ...
(Date:1/17/2017)... ... January 17, 2017 , ... Mirror Mirror Beauty Boutique, Houston’s premiere ... Diamond Level in Zeltiq’s Crystal Rewards Program. Practice founder, Paul Vitenas, MD FACS, is ... of providers. , Produced by Zeltiq, CoolSculpting is approved by the Food and ...
Breaking Medicine News(10 mins):
(Date:1/17/2017)... 2017  Pennsylvania Secretary of Health Dr. ... marijuana growers/processors and dispensaries are now available on ... Permit applications will be accepted from February 20 ... an important step forward in getting this valuable ... Murphy said. "We,ve developed a thorough application that ...
(Date:1/17/2017)... 17, 2017  Edwards Lifesciences Corporation (NYSE: ... structural heart disease and critical care monitoring, plans to ... 31, 2016 after the market closes on Wednesday, February ... 5:00 p.m. ET that day to discuss those results. ... (877) 407-8037 or (201) 689-8037.  For 72 hours following ...
(Date:1/17/2017)... 2017  Market Research Future published a Half Cooked Research Report ... to reach USD 33.6 million during the period 2016 to 2022 ... ... Market has been examined as a swiftly growing market and expected ... for endoscopy device in various regions.  The increasing growth in endoscopy ...
Breaking Medicine Technology: