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UMMS researchers isolate first 'neuroprotective' gene in patients with amyotrophic lateral sclerosis
Date:5/11/2009

ns its course once underway. During their search, the consortium detected a beneficial variant of the KIFAP3 gene which was associated with an increase in survival time of 40 to 50 percent.

Because survival with ALS is normally only three to five years, patients with the KIFAP3 gene variant experience a substantial improvement. In fact, the impact of this genetic variant is comparable to the effect of the only drug (Riluzole) now approved for use in the United States. More importantly, this genetic variant may potentially point the way to future drug development efforts.

While it's still unclear how the KIFAP3 gene variant alters the progression of ALS, researchers know that it is involved with a number of cellular processes, including the transport of essential molecules throughout the nerve cell.

"The favourable gene variant decreases levels of a motor protein complex in nerves," said Landers. "This complex transports substances through different parts of nerve cells. If we can understand the biological basis for the beneficial effect in ALS, it will potentially provide a target for the development of new ALS treatments."

Ammar Al-Chalabi, PhD, co-senior author of the study and Professor of Neurology and complex disease genetics at King's College, London added, "Treatments can now be directly designed to exploit the effect of this gene variation."


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Contact: James Fessenden
james.fessenden@umassmed.edu
508-856-2000
University of Massachusetts Medical School
Source:Eurekalert

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