March 6, 2006
Newly Revealed Chromosome Locations Linked to ALS
[QUICK SUMMARY : New genes that are linked to ALS open doors for therapeutic advances.]
The ALS Association (ALSA) as part of its monthly journal news service is highlighting new genetic discoveries in amyotrophic lateral sclerosis (ALS, also called Lou Gehrig’s disease).
“These findings and the promise of identifying novel gene mutations linked to ALS open up completely new avenues for understanding the disease and developing therapies,” said Lucie Bruijn, Ph.D., ALSA’s science director and vice president. Bruijn added, “These discoveries will lead to the development of novel model systems to validate interesting compounds for the treatment of ALS.”
Two studies appear in print this month describing a novel region on chromosome 9 linked to ALS and frontotemporal dementia (FTD). For further information on FTD, please see Cognitive Changes with ALS. In one study, the newly suspect region on chromosome 9 was identified in a large Scandinavian family by a team led by Harvard researcher Robert Brown, Jr. D.Phil, M.D.
In a second study, led by Christopher E. Shaw at King's College and the Institute of Psychiatry in London, U.K., a similar region on chromosome 9 was linked to a Dutch family with ALS and FTD. Bioinfomatic analysis of this region identified 103 genes.
In other findings, researchers led by Orla Hardiman, M.D., Beaumont Hospital, Dublin, report that the changes in a gene coding for a protein called angiogenin are associated with a large number of patients with ALS in Irish and Scottish populations, whereas these changes were not associated with ALS patients from the US, England or Sweden. Angiogenin is involved in the body’s response when tissues are starved of oxygen, prompting the growth of new blood vessels. Similar to another growth factor, abbreviated as VEGF (for vascular endothelial growth factor) already implicated in ALS, angiogenin is found in motor neurons. A gene therapy approach to deliver VEGF is already in development for the treatment of ALS. As with VEGF, it is interesting that the association of mutations in angiogenin with ALS is present in some populations but apparently not in others.
For further details and journal links, refer to the monthly journal news.
