Scientists unlock multiple genes between Down's syndrome and Alzheimer's disease
June 28, 2018 Source: Biological Exploration
Window._bd_share_config={ "common":{ "bdSnsKey":{ },"bdText":"","bdMini":"2","bdMiniList":false,"bdPic":"","bdStyle":" 0","bdSize":"16"},"share":{ }};with(document)0[(getElementsByTagName('head')[0]||body).appendChild(createElement('script')) .src='http://bdimg.share.baidu.com/static/api/js/share.js?v=89860593.js?cdnversion='+~(-new Date()/36e5)];Recently, a new study led by researchers from the Francis Creek Institute in the United Kingdom and the University of California at Los Angeles led scientists to further analyze some of the genes that cause early-onset Alzheimer's disease in Down syndrome patients. The discovery paved the way for the development of drugs for the disease and provided insight into the mechanisms that led to dementia in the general population.
Credit: CC0 Public Domain
Down syndrome occurs in people who carry an extra copy of chromosome 21, and about one in every 800 people will develop the disease. About two-thirds of patients develop Alzheimer's disease in their 60s.
Previous studies have suggested that the high incidence of Alzheimer's disease in patients with Down syndrome is caused by a special gene called APP on chromosome 21. Among chromosome 21, which contains 231 genes, APP is the main suspect because it produces amyloid precursor proteins (including β-amyloid) and accumulates in the brains of Alzheimer's patients.
On June 26, published in the article "Brain" magazine entitled "Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP", the researchers found that additional copies of other genes on chromosome 21 increased. Down syndrome mice develop brain pathology and cognitive impairment similar to Alzheimer's disease.
DOI: 10.1093/brain/awy159
Specifically, the team compared mice producing APP amyloid and mice without human chromosome 21 to distinguish the role of 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, and that these mutant mice expressed more amyloid and more in their brains. Protein clusters or "plaques", as well as poorer performance in memory tests.
What is the cause of this condition? The team found that these mice produced more specific types of amyloid-beta protein, which increased the risk of disease formation.
Dr. Frances Wiseman, a senior researcher at the University of California, Los Angeles, and the first author of the study, said: "We have shown 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 intervene in these pathways one day to prevent diseases in patients with Down syndrome."
Finally, the paper co-author Elizabeth Fisher added: “Although we look at Alzheimer's disease from the perspective of Down syndrome, this international collaboration provides insight into the early stages of disease development, which may also apply to regulation. The most common Alzheimer's disease."
References: 1) Genes linking Alzheimer's and Down syndrome discovered
Original title: More than one! Scientists unlock multiple genes between Down's syndrome and Alzheimer's disease
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