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

n identified, each appears to have a very small impact on disease risk. Recently research has found that CNVs in which DNA segments of varying lengths are deleted or duplicated have a greater impact on genomic diversity than do single-nucleotide changes. This led Tanzi and his team to search for large CNVs in affected members of families with inherited Alzheimer's disease. "These are the first new early-onset familial Alzheimer's disease gene mutations to be reported since 1995, when we co-discovered the presenilins. As with those original genes, we hope to use the information gained from studies of the new Alzheimer's mutations to guide the development of novel therapies aimed at preventing and treating this devastating disease." Tanzi explains.

The investigators reviewed genomic data from two sources the NIMH Alzheimer's Disease Genetics Initiative and the National Cell Repository for Alzheimer's Disease and focused on 261 families with at least one member who developed Alzheimer's before the age of 65. Using a novel algorithm they had developed for analyzing CNVs, the researchers identified deletions or duplications that appeared only in affected members of these families. Two of these families had CNVs that included the well-established amyloid precursor protein gene, but 10 others were found to have novel Alzheimer's-associated CNVs, with different gene segments being affected in each family.

While none of the novel variants have previously been associated with Alzheimer's disease, most of them affect genes believed to be essential to normal neuronal function, and several have been previously associated with other forms of dementia. For example, one of the identified CNVs involves deletion of a gene called CHMP2B, mutations of which can cause ALS. In another family, affected members had three copies of the gene MAPT, which encodes the tau protein found in the neurofibrillary tangles characteristic of Alzheimer's. Mutations in MAPT al
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Contact: Mike Morrison
mdmorrison@partners.org
617-724-6425
Massachusetts General Hospital
Source:Eurekalert

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