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Rare genomic mutations found in 10 families with early-onset, familial Alzheimer's disease
Date:6/17/2013

Although a family history of Alzheimer's disease is a primary risk factor for the devastating neurological disorder, mutations in only three genes the amyloid precursor protein and presenilins 1 and 2 have been established as causative for inherited, early-onset Alzheimer's, accounting for about half of such cases. Now Massachusetts General Hospital (MGH) researchers have discovered a type of mutation known as copy-number variants (CNVs) deletions, duplications, or rearrangements of human genomic DNA in affected members of 10 families with early-onset Alzheimer's. Notably, different genomic changes were identified in the Alzheimer's patients in each family.

The study was conducted as part of the Alzheimer's Genome Project directed by Rudolph Tanzi, PhD, director of the Genetics and Aging Research Unit at Massachusetts General Hospital (MGH) and a co-discoverer of the first three early-onset genes and was supported by the Cure Alzheimer's Fund and the National Institute of Mental Health (NIMH).

"We found that the Alzheimer's-afflicted members of these families had duplications or deletions in genes with important roles in brain function, while their unaffected siblings had unaltered copies of those genes," says Basavaraj Hooli, PhD, of the Genetics and Aging Research Unit, MassGeneral Institute for Neurodegenerative Disease, lead author of a report that has been published online in Molecular Psychiatry. "Since our preliminary review of the affected genes has provided strong clues to a range of pathways associated with Alzheimer's disease and other forms of dementia, we believe that further research into the functional effects of these CNVs will provide new insights into Alzheimer's pathogenesis." Hooli is a research fellow in Neurology at Harvard Medical School.

Most studies searching for genes contributing to Alzheimer's risk have looked for variants in a single nucleotide, and while thousands of such changes have bee
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Contact: Mike Morrison
mdmorrison@partners.org
617-724-6425
Massachusetts General Hospital
Source:Eurekalert

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