Sunday, January 24, 2016

Human Genome Data

The human genome data is here: http://www.ncbi.nlm.nih.gov/genome/guide/human/  I always wondered where this data was.  My office is near a cell biologist professor so I asked her.

You can click on a chromosome and see the locations of genes.

APP (chromosome 21), PSEN1 (chromosome 14) and PSEN2 (chromosome 1) are genes related to familial early-onset Alzheimers.  I could find all but PSEN1 on the maps; although a search shows information on PSEN1 and the location 1q42.13.

APP is the amyloid precursor protein.  PSEN stands for presenilin.

A gene that can predispose people to the late-onset version of Alzehimer's is APOE (apolipoprotein E) on chromosome 19.  There are 3 versions APOE2, 3 and 4. You inherit 2 of them.  APOE2 lowers your risk, APOE3 has little impact on risk.  However APOE4 increases your risk; one copy (3-4X); two copies (15X).    1/3 of those w/ Alzheimer's don't have the APOE4 gene and 50% of those w/ 2 copies of the APOE4 gene live to 80 w/o Alzheimer's so........???  The APOE gene is involved in many processes (inflammatory, cholesterol movement, brain blood flow).

All the above info came from "The End of Memory-a Natural History of Aging and Alzheimer's" by Jay Ingram.