Breakthrough Discovery, Aging-Linked Genomic Factor Identified in Alzheimer's Disease: Study - Video

A study published in the journal Science, Researchers at Washington University School of Medicine in St. Louis has developed a way to capture the effects of ageing in the development of Alzheimer’s disease. They devised a method to study aged neurons in the lab without a brain biopsy, an advancement that could contribute to a better understanding of the disease and new treatment strategies.

The scientists transformed skin cells taken from patients with late-onset Alzheimer’s disease into brain cells called neurons. Late-onset Alzheimer’s develops gradually over many decades and only starts to show symptoms at age 65 or older. By studying these cells, the researchers identified aspects of cells’ genomes — called retrotransposable elements, which change their activity as we age — in the development of late-onset Alzheimer’s disease. The findings suggest new treatment strategies targeting these factors.

The method to transform easily obtained human skin cells from living patients directly into neurons makes it possible to study Alzheimer’s effects on the brain without the risk of a brain biopsy and in a way that retains the consequences of the patient’s age on the neurons. After transforming skin cells into brain cells, the researchers found that the new neurons can grow in a thin gel layer or self-assemble into small clusters, called spheroids, mimicking the 3D environment of the brain.

The Alzheimer’s disease patients’ spheroids quickly developed amyloid beta deposits and tau tangles between neurons. Activation of genes associated with inflammation also emerged and then the neurons began to die, mimicking what is seen in brain scans of patients.

The study concludes that the identification of an ageing-linked genomic factor in Alzheimer's disease provides crucial insights into the disease's underlying mechanisms. This discovery highlights the potential for developing targeted therapies that address the genomic changes associated with ageing, potentially offering new avenues for treatment and prevention. Further research is necessary to explore the therapeutic implications and to understand how these genomic factors contribute to the progression of Alzheimer's disease.

References: A. Serrano-Pozo, M. P. Frosch, E. Masliah, B. T. Hyman, Neuropathological alterations in Alzheimer disease. Cold Spring Harb. Perspect. Med. 1, a006189 (2011).