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Wednesday, November 11th, 2009

SORL1 Gene and Alzheimer’s Disease

January 16, 2007 by Lei  
Filed under Health

brainA variation of the SORL1 gene encoding the sortilin-related receptor has been associated with a three times greater risk of developing Alzheimer’s disease (AD) in Dominican families. Previously, a two-fold lower expression of this gene was found in lymphoblasts taken from patients with AD. Another study also detected a lower level of the SORL1 receptor in the frontal cortex nerve cells of AD brains. A relationship between the structure and function of SORL1 to the ApoE receptor ties the SORL1 gene even closer to development of AD.

From the New York Times:

Having genetically screened some 6,000 people, the researchers found that in four of their populations people with Alzheimer’s had distinguishing genetic markers in just one of the seven genes, known as SORL1. Patients with the variant forms of the gene produce less of that gene’s protein than usual, leading to a different traffic pattern and allowing a particular protein in nerve cells, known as the amyloid precursor protein, to be converted into toxic form.

No specific mutation has yet been identified but if treatment could be used to target the gene and increase the production of the SORL1 receptor, it could help in preventing Alzheimer’s disease.

For more about being a caregiver for Alzheimer’s patients, visit our sister blog – Alzheimer’s Notes.

Photo: The unnamed

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