Scholars reveal new genetic mechanisms in Alzheimer’s disease

Alzheimer’s disease (AD) is a common neurodegenerative disease. Genetic studies have found thousands of genetic loci associated with Alzheimer’s risk. However, due to the complex pathogenesis and the presence of most of the sites associated with Alzheimer’s disease risk in the cis-regulatory element region in the non-coding region of the genome, further in-depth research, including determining the specific cell types affected by these sites, the target genes they regulate, and ultimately how they affect physiological functions and cause disease, has always been a difficult problem in the field of AD genetics. The lack of understanding of the genetic mechanism of Alzheimer’s disease has led researchers to develop effective predictions and treatments.

Recently, Shen Yin’s research group at the University of California, San Francisco, and Li Yun’s research group at the University of North Carolina at Chapel Hill jointly published a paper in the journal Nature Genetics. Through the use of multifaceted experiments and analytical methods, the latest results of the genetic mechanism of Alzheimer’s disease are revealed.

Photo courtesy of interviewee

This study covers microglia-specific three-dimensional epigenomic labeling, accurate genetic prediction, high-throughput single-cell-level CRISPR interference screening to find true functional sites and the genes they regulate, and further elucidating the functional characteristics of risk sites associated with disease at the cellular level. It is the first comprehensive study of AD noncoding risk sites, which has guiding significance for studying more complex disease-related loci, accurately locating pathogenic sites and revealing genetic mechanisms in the future. (Source: Zhang Qingdan, China Science News)

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