July 24, 2003

MDA RESEARCHERS MAP NEW ALS GENE
TO SPOT ON CHROMOSOME 16

MDA-supported researchers this week announced the mapping of an as-yet-unidentified gene lying within a small region of chromosome 16 that could account for some genetic cases of amyotrophic lateral sclerosis (ALS, or Lou Gehrig’s disease). The gene, which is expected to be identified soon, is likely to yield significant information about how the disease can be caused and to broaden the applications of diagnostic and predictive testing for ALS.

MDA-supported investigators Robert Brown and Diane McKenna-Yasek at Massachusetts General Hospital in Boston, and Jonathan Haines at Vanderbilt University Medical Center in Nashville, Tenn., were part of a group that identified a small region of chromosome 16 that’s clearly associated with the development of ALS. They also found a region of chromosome 20 that may harbor an ALS-causing genetic change (mutation).

The researchers analyzed 16 families with inherited ALS in the Boston area and one in the Chicago area.

The findings will appear, along with similar findings by two non-U.S. groups, in the August issue of the American Journal of Human Genetics.

Until a decade ago, no genes for ALS had been identified, though it was known to run in some families.

In 1993, MDA-supported researchers identified a gene on chromosome 21 that, when flawed, causes some 2 percent of all cases of ALS and 20 percent of clearly inherited cases.

The identification of the chromosome 21 gene, known as SOD1, allowed scientists to develop theories of ALS causation and to study disease development and potential treatments in mice bred with SOD1 gene flaws.

The identification of a chromosome 16 gene should allow similar progress to occur, scientists say.

“Ultimately, the more we understand of the cause of ALS, the more directed our therapeutic efforts can be,” said Sharon Hesterlee, director of research development at MDA. “When this new gene is identified, researchers can compare the effect of its mutation with that of SOD1 and begin to look for common pathways.”

Christopher Shaw of Guy’s, King’s and St. Thomas’ School of Medicine in London headed a second group, which found the same link between ALS and the chromosome 16 region in two large, unrelated European families.

Jacqueline de Belleroche of the Imperial College in London led a third team that linked the same region to ALS in a three-generation family in the United Kingdom.