The New Alzheimer’s Gene

Researchers from several prestigious centers in Columbia, Boston, and Toronto have now published their findings concerning a new gene - SORL1 - that is involved in late-onset Alzheimer's disease. The first gene to be reported for this condition was ApoE4, identified in 1993.

The report in Nature Genetics describes how variations in the SORL1 gene were found to be more common in people with late-onset Alzheimer’s than in healthy people the same age. It's theorized that the genetic changes alter the normal function of SORL1, so that more amyloid-beta accumulates in the brain, resulting in Alzheimer's. When the SORL gene works properly, the amyloid precursor molecule is sent for recycling, rather than being built into toxic forms. Importantly, these findings were reproduced in 4 distinct ethnic groups: Caribbean-Hispanics, and of Europeans, African-Americans, and Israeli-Arabs.

The researchers claim that the discovery “opens new pathways to explore the cause and …. potential targets for treatment of this devastating disease.” It certainly brings the role of amyloid-beta into some prominence, emphasizing the importance of recent clinical results with an anti-amyloid vaccine and other endeavors to interfere with amyloid metabolism. The next step for the researchers is to determine which of the variants of SORL1 contain the specific disease-causing alteration. Also, it's known that ApoE4 accounts for approximately 20% of all cases of late-onset Alzheimer's; now it’s necessary to find out how many Alzheimer's cases are attributable to the SORL1 variations.