What are chromosomes?

Chromosomes serve as storage centers for our genetic information. They consist of long, threadlike strands that are tightly coiled. 

Chromosomes house DNA, the molecule that carries genetic instructions. These instructions, segmented into genes, influence everything from our physical appearance to our risk for certain diseases.

Chromosomes are large enough to be seen under a microscope, offering a direct view into the genetic blueprint of life. In humans, there are 23 pairs of chromosomes, totaling 46, with each parent contributing one chromosome to each pair.

The 23rd pair of chromosomes are our sex chromosomes. Males have one X chromosome and one Y chromosome (XY), while females have two X chromosomes (XX). 

The link between chromosomes and familial Alzheimer’s disease

Familial Alzheimer's disease (FAD) is an inherited form of Alzheimer's, linked to mutations in certain genes on our chromosomes. Three genes, in particular, are associated with FAD:

  • amyloid precursor protein (APP), located on chromosome 21

  • presenilin 1 (PSEN1), located on chromosome 14

  • presenilin 2 (PSEN2), located on chromosome 1

These genes are involved in the production and processing of amyloid-β (pronounced amyloid-beta), pieces of protein that form the plaques in the brain that characterize Alzheimer's disease.


Learn the basics of familial Alzheimer’s disease

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