martes, 27 de septiembre de 2011

Media Availability: Landmark studies reveal genetic mutation linked to inherited forms of ALS, dementia

Media Availability: Landmark studies reveal genetic mutation linked to inherited forms of ALS, dementia   For Immediate Release
Wednesday, September 21, 2011

NIA Office of Communications & Public Liaison
NINDS Office of Communications

WHAT: In landmark research, NIH scientists and worldwide teams of researchers have identified the most common genetic cause known to date for two neurological diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The milestone discovery offers clues to underlying mechanisms of these diseases and may contribute to the design and testing of possible therapies.

The research results appear Sept. 21, 2011, online in Neuron. In a study reported by Bryan Traynor, M.D., of the Laboratory of Neurosciences at the NIH’s National Institute on Aging (NIA), with support from NIH’s National Institute of Neurological Disorders and Stroke (NINDS), researchers found that a mutation on a single gene, C9ORF72 on chromosome 9, accounts for nearly 50 percent of familial ALS and FTD in a population in Finland, and more than a third of familial ALS in other groups of European ancestry. The mutation, called a hexanucleotide repeat expansion, is an unusual one that involves repeating a DNA sequence over and over again. The researchers also found these mutations in Finnish individuals with the more common, sporadic form of ALS.

NIA and NINDS also funded work by a team from the Mayo Clinic Florida, reported by Mayo investigator Rosa Rademakers, Ph.D., and colleagues, which independently identified the same repeat DNA sequence as a genetic cause of FTD/ALS.

Both ALS, often referred to as Lou Gehrig's disease, and FTD are rapidly progressive, fatal neurological disorders that attack and kill brain cells, or neurons. People with ALS lose strength and the ability to move their arms, legs, and body, and eventually, the ability to breathe without support. About five percent of people with ALS have the directly inherited form of the disease. People with FTD develop erratic behavior, emotional problems, trouble communicating, or difficulty with walking and other basic movements. About 20 to 40 percent of those with FTD have a family history of the disorder. ALS and FTD can occur together in the same individual.

There is growing scientific evidence that the pathologies of ALS and FTD somehow overlap; to date, a number of mutated genes have been identified as playing a role in the development of familial FTD and ALS, but not to the level of significance as the discovery of the 9p21 gene mutation.

“Until now, the gene alteration responsible for the chromosome 9p-linked inherited forms of these devastating diseases remained elusive,” said Traynor. “Investigators world-wide worked together to identify the most common genetic cause of these fatal disorders to date. Finding these types of mutations is critically important to a better understanding of disease mechanisms, so that we can ultimately target disease biology to develop therapeutic interventions.”

Renton, A.E., et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked FTD/ALS, Neuron, 10.1016/j.neuron.2011.09.010. Published online September 21, 2011.
Rademakers, R., et al. Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked frontotemporal dementia and amyotrophic lateral sclerosis.DOI 10.1016/j.neuron.2011.09.011. Published online September 21, 2011.

Bryan Traynor, M.D., Chief, Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, NIA Intramural Research Program
Amelie Gubitz, Ph.D., Program Director, Neurodegeneration, NINDS
CONTACT: To schedule interviews, contact:
NIA Office of Communications & Public Liaison, 301-496-1752,
NINDS Office of Communications, 301-496-5924,
SUPPORT: The Traynor et al research was supported by the intramural research programs of the NIA and NINDS. The research was based on an international collaboration between scientists at institutions in the United States, Canada and Europe. For a list of collaborators and to read the papers, go to

The Mayo Clinic Florida research was supported in part by NIA and NINDS.

The NIA leads the federal government effort conducting and supporting research on aging and the health and well-being of older people. The Institute’s broad scientific program seeks to understand the nature of aging and to extend the healthy, active years of life. For more information on research and aging, go to

NINDS ( is the nation's leading funder of research on the brain and nervous system. The NINDS mission is to reduce the burden of neurological disease—a burden borne by every age group, by every segment of society, by people all over the world.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit

Media Availability: Landmark studies reveal genetic mutation linked to inherited forms of ALS, dementia

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