RespiteMatch.com Health Blog

for January 27, 2006
ALSA Funds New Grants with Focus on Gene Discovery
Roberta Friedman, Ph.D., ALSA Research Department Information Coordinator

The ALS Association (ALSA) announces new funding for investigations into possible genetic links to the disease, amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease). The funds awarded are to investigators recognized as experts in their fields as part of the emphasis that ALSA places on recruiting and retaining such expertise to the goal of treating ALS. ALSA identifies and supports avenues of investigation that are likely to accelerate the pace of new discoveries that will lead to new therapeutics. This ALSA-initiated funding will support the efforts of two investigators who will help reveal the genetic underpinnings of the disease.

Pieces of the genetic puzzle of ALS have yet to fit into place. ALSA maintains an intensive focus on the search for new genes with a role in the disease. The discovery of the SOD1 mutation, a change in the gene coding for the protein, copper-zinc superoxide dismutase (SOD1), led to models of the disease in rodents that have accelerated the pace of research that is beginning to clarify the biology of the disease process.

Other gene changes since have been linked to motor neuron disorders resembling ALS to different degrees. These genes implicated in motor neuron diseases include those that code for proteins that help support and transport materials within the cell: the neurofilaments and the motor molecules dynein and dynactin. In addition, researchers have found a mutation in the gene for senataxin, a protein involved in the proper processing of Ribonucleic acid (RNA), which aids in transcribing the instructions in the genes.

Search for New ALS Genes

Researchers have meanwhile identified a set of 30 genes selectively expressed in motor neurons and involved in the maintenance and development of these neurons, the ones that make our muscles contract when we want to move. It is possible that errors in any one of these genes may lead to motor neuron degeneration, a key feature of ALS. Guy Rouleau’s group at Notre Dame Hospital, Montreal, Quebec will determine whether there are any disease-linked mutations by sequencing these genes in a large number of ALS patients

Christopher E. Shaw’s group at King’s College Institute of Psychiatry, London has found a region of the genome linked with frontotemporal dementia (FTD) and ALS on the short arm of Chromosome 9. The two disorders can occur in families as distinct or coexisting conditions. One of the genes in this region of chromosome 9 likely carries a relevant mutation. He will start screening the best candidates immediately and use DNA samples from other ALS families to narrow down the region of greatest interest

Any piece of the genetic puzzle that is part of ALS will help explain the interaction between a person’s genes and their life experience that could produce the disorder. As researchers uncover genes involved in motor neuron diseases, the pieces of the puzzle could fall into place, turning out to be part of a common pathway that could be addressed by a new therapeutic. The new projects now funded stand to make important headway toward a better knowledge of why neurons die in ALS and what can be done to halt and perhaps even repair the damage.

The ALS Association, National Office
27001 Agoura Road, Suite 150
Calabasas Hills, CA 91301-5104
Phone: (818) 880-9007
Fax: (818) 880-9006

You can leave a legacy of hope by including The ALS Association in your will, living trust or other estate planning. For more information, visit www.alsa.org/giftplanning.

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