ALS Research Roundup April 2004

by Margaret Wahl on Thu, 2004-04-01 07:00
Article Highlights:

Research Roundup updates as of March 2004:

VEGF deficiency implicated in second disease

A recent MDA-supported study found that a deficiency of a protein called vascular endothelial growth factor (VEGF) is likely to be a major contributor to spinal-bulbar muscular atrophy (SBMA, or Kennedy’s disease), a motor neuron disorder that in some respects resembles ALS, though it’s less severe.

Diane HUberty
Albert La Spada

MDA grantees Albert La Spada at the University of Washington in Seattle and Lisa Ellerby of the Buck Institute in Novato, Calif., participated in the study.

Previous MDA-supported work by molecular geneticist Peter Carmeliet at Catholic University of Leuven in Belgium suggested that variations in the gene for VEGF are probably a risk factor for the development of ALS.

The root cause of SBMA is a genetic flaw in the gene for the androgen receptor, which transports androgens (male hormones) to the cell nucleus. But a study in the March 4 issue of Neuron shows that the downstream effect of the androgen receptor flaw is a deficiency of VEGF.

The new finding, coupled with the finding of VEGF genetic variations in ALS, raise the tantalizing question of whether giving VEGF to people with ALS or SBMA might help preserve their motor neurons — a question MDA research grantees will address.

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Smoking is likely ALS risk factor

David Jayne

Smoking is probably a risk factor for developing ALS, experts say.

Carmel Armon, chief of the Division of Neurology at Baystate Medical Center in Springfield, Mass., told Neurology Today in February that accumulated evidence shows that smoking is "more likely than not" linked to ALS development.

Greg Carter, who co-directs the MDA/ALS Center at the University of Washington in Seattle, notes that such a link was first reported four years ago, and that the newer data appear to support the link.

The initial finding, published in the Jan. 15, 2000, issue of the American Journal of Epidemiology, was based on information gathered from people with and without ALS in Washington state between 1990 and 1994.

Epidemiologist Lorene Nelson, who left the University of Washington for Stanford (Calif.) University in 1992, worked on that study, as did UW neurologist W.T. Longstreth Jr., with Valerie McGuire and Chantal Matkin from Stanford’s Department of Health Research and Policy.

The UW-Stanford group reported that having ever smoked cigarettes was associated with twice the risk of developing ALS, while current smokers ran more than three times the risk of getting ALS compared to nonsmokers.

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Biomarker study begins

Merit Cudkowicz, a neurologist at Massachusetts General Hospital in Boston who receives MDA support, is beginning a new study of biological markers in ALS that may aid in early diagnosis and be used to monitor the course of the disease during trials of new drugs.

Cudkowicz and colleagues are working closely with the Durham, N.C., biotechnology company Metabolon.

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Novartis study full

The Novartis-sponsored study of TCH346, a compound that may help preserve motor neurons in ALS, has reached its recruitment target and is now closed.

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Margaret Wahl
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