MIT neuroscientists have identified rare variants of a gene called ABCA7. These rare variants, when dysfunctional, contribute to the development of Alzheimer’s disease in people who already carry it. ABCA7 encodes a protein that transports lipids across the cell membrane. The mutations of ABCA7 alter the metabolic activity of a molecule called phosphatidylcholine. These mutations cause neurons to become hyperexcitable, damaging DNA and other crucial cellular components. However, researchers have discovered a way to reverse this with choline, a protein precursor that helps build cell membranes. With choline treatment, not only are the functional defects reversed, but hyperexcitability also decreases. Additionally, individuals carrying ABCA7 variants that produce low levels of functional ABCA7 have twice the risk of developing Alzheimer’s compared to those not carrying the variants. The study revealed the importance of ABCA7 in maintaining lipid homeostasis in the brain.
Links:
https://pmc.ncbi.nlm.nih.gov/articles/PMC12728103/
https://news.mit.edu/2025/study-explains-how-rare-gene-variant-contributes-alzheimers-disease-091
Tags:
#ABCA7 #Neurons #LipidHomeostasis #Alzheimer’s
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