Recently, a new study led by researchers from the Francis-Crick Institute and the University of California, Los Angeles has enabled scientists to further analyze some of the genes that cause early-onset Alzheimer's disease in Down's syndrome patients. The discovery paved the way for the development of drugs for the disease and provided insights into the mechanisms that lead to dementia in the general population.
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Down Syndrome appears in people carrying an extra copy of chromosome 21, and about one in 800 people will suffer from the disease. About two-thirds of patients develop Alzheimer's disease in their 60s.
Previous studies have suggested that the high prevalence of Alzheimer's disease in patients with Down syndrome is caused by a special gene called APP on chromosome 21. Of chromosome 21, which contains 231 genes, APP is the main suspect because it produces amyloid precursor proteins, including beta-amyloid, and accumulates in the brain of Alzheimer's patients.
On June 26, in an article published in Brain magazine entitled “Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APPâ€, the researchers found that extra copies of other genes on chromosome 21 increased. Down's Syndrome mice develop brain pathology and cognitive impairment similar to Alzheimer's disease.
DOI: 10.1093/brain/awy159
Specifically, the team compared mice that produced APP amyloid and mice that did not have human chromosome 21 to distinguish between APP and other genes in Alzheimer's disease.
They found that extra copies of all genes on chromosome 21 showed more signs of Alzheimer's disease than mice without extra copies. Moreover, the expression of amyloid and more Protein clusters or "plaques", and perform worse in memory tests.
What was the cause of this condition? The team found that these mice produce more specific types of amyloid beta proteins, increasing the risk of lesion formation.
Dr. Frances Wiseman, senior researcher at the University of California, Los Angeles, and lead author of the study, said: "We showed for the first time that genes other than APP play a role in early onset Alzheimer's disease in the Down Syndrome model. Determining what these genes are and what pathways are involved in the earliest stages of neurodegeneration can help us one day intervene in these pathways to prevent Down's Syndrome patients."
Finally, the co-author of the paper, Elizabeth Fisher, added: "Although we look at Alzheimer's disease from Down's syndrome, this international cooperation provides an in-depth understanding of the early stages of disease development, which may also apply to regulation. The most common Alzheimer disease."
Reference: 1) Genes linking Alzheimer's and Down syndrome discovered
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