Showing posts with label SORL1. Show all posts
Showing posts with label SORL1. Show all posts

Wednesday, December 4, 2013

Alzheimer's Risk Gene May Begin to Affect Brains in Childhood, Research Shows

The SORL1 gene is linked to an increased risk of late-onset Alzheimer's disease. In a study from the Centre for Addiction and Mental Health (CAMH), individuals who possessed this gene exhibited changes in the brain during childhood. This link was confirmed in each of the three approaches used. Using diffusion tensor imaging (DTI), individuals age 8-86 with a specific copy of SORL1 had a reduction in white matter, which is important for memory. The next sample employed post-mortem brain tissue from individuals who were under a year old to 92 years of age and who did not have Alzheimer's disease. Those who had the same copy of the gene exhibited a disruption in process that enables the gene to translate to become sortilin-like receptor. In the third sample, post-mortem brain tissue from 66-108 years of age consisted primarily of individuals who had some form of cognitive impairment or Alzheimer's disease. Individuals who had the SORL1 gene had amyloid-beta protein, which is observed in Alzheimer's patients. Link to the Article

Wednesday, April 11, 2012

New gene discovered could lead to early-onset forms of Alzheimer's Disease

Dominique Campion and his research team have discovered a new gene that could signify early-onset of Alzheimer's Disease. Mutations were found on the gene SORL1, which is on choromosome 11. This gene regulates the production of beta-amyloid peptides, that is used to affect the functioning of brain cells. In the original study including 130 families with early-onset forms, 116 families had mutations of formerly known genes. The unknown mutations of 14 families were then studied further, and showed that 5 out of 14 families had mutation on the SORL1 gene. Seeing this pattern, the researchers have begun to link Alzheimer's Disease to SORL1. A few of the mutations show an increase in beta-amyloid peptides, which contribute to the early onset of Alzheimers.



If this gene in fact plays a major role in the onset of Alzheimer's Disease, it is essential that we experiment quickly and correctly. This will change the lives of everyone; not only will the elderly be affected, but family members will not have to witness the horrific pain associated with watching a loved one forget everything.