Presenilins Genes and Alzheimer’s Disease
Researchers have found that mutations in the presenilins genes 1 and 2 are involved in familial Alzheimer’s disease in two ways.
- Forming plaques in the brain that play a role in causing Alzheimer’s disease
- Regulating calcium balance in cells.
The level of calcium can affect cell function with resulting influences on learning and memory. If mutations in the presenilin genes are associated with the development of Alzheimer’s, this would provide a new target for drug and/or gene therapy. Experiments have already shown that restoring the normal version of the presenilin genes leads to normal calcium balance in cells.
NB: Caregivers of people with Alzheimer’s disease may find our sister blog, Alzheimer’s Notes, interesting and helpful.
Cell, September 8, 2006
Forbes, September 19, 2006
Technorati Tags: alzheimers, alzheimers disease, disease, illness, health, presenilins, genes, genetics, dna
Related Stories
POSTED IN: Genetics of Disease
.gif)
3 opinions for Presenilins Genes and Alzheimer’s Disease
Axel
Sep 22, 2006 at 1:43 pm
We all start losing memory starting in our 30s.
But the good news is that we can build new cells IF we keep our brain stimulated.
I received a gift from my daughter to join the online brain gym Agogus.com and I personally love it. It offers fun games, new things to learn everyday, daily challenges. We should all workout our brain a few minutes per day.
Genetics and Health » Chromosome Parade #1
Nov 12, 2006 at 12:25 am
[…] This week, I’m checking out the PSEN2 gene on the long arm of chromsome 1 (1q31-q42). I’ve written about the presenilin genes before and here’s an excerpt from the Genetics Home Reference: Approximately 11 mutations in the PSEN2 gene have been shown to cause type 4 Alzheimer disease. Mutations in this gene account for less than 5 percent of cases of early-onset familial Alzheimer disease. Two of the most common PSEN2 mutations that cause type 4 Alzheimer disease change one of the building blocks (amino acids) used to make presenilin 2. …These mutations appear to affect the processing of amyloid precursor protein, leading to the increased formation of a protein fragment called amyloid beta peptide. This peptide can form clumps in the brain (amyloid plaques) that are characteristic of Alzheimer disease. […]
16id | Chromosome Parade #1: Presenilin 2 Gene
Aug 29, 2007 at 1:09 pm
[…] checking out the PSEN2 gene on the long arm of chromsome 1 (1q31-q42). I’ve written about the presenilin genes before and here’s an excerpt from the Genetics Home Reference: Approximately 11 mutations in the […]
Have an opinion? Leave a comment: