Rare ABCA7 Gene Variants Linked to Alzheimer’s Risk

Rare ABCA7 gene variants linked to Alzheimer’s risk

A new study from MIT neuroscientists reveals how rare variants of a gene called ABCA7 may contribute to the development of Alzheimer's in some of the people who carry it.

ABCA7 variants impact phosphatidylcholine and mitochondria in neurons

Loss-of-function variants in the lipid transporter ABCA7 substantially increase the risk of Alzheimer’s disease1,2, yet how they impact cellular states to drive disease remains unclear. Here, using single-nucleus RNA-sequencing analysis of human brain samples, we identified widespread gene expression changes across multiple neural cell types associated with rare ABCA7 loss-of-function variants. Excitatory neurons, which expressed the highest lev…

ABCA7 Variants Alter Neuronal Mitochondria, Phosphatidylcholine

In the quest to unravel the intricate ways by which genetic variations influence brain function and neurodegenerative disease, a groundbreaking study has illuminated the pivotal role of the ABCA7 gene in regulating mitochondrial health within neurons. Leveraging cutting-edge genomic and bioenergetic analyses, researchers have unveiled that loss-of-function (LoF) mutations in ABCA7 lead to profound alterations in mitochondrial dynamics, with far-…

Rare Gene Variant Linked to Alzheimer’s Disease, MIT Study Reveals

In a groundbreaking new study led by neuroscientists at the Massachusetts Institute of Technology, rare genetic variants of the ABCA7 gene have been implicated in the pathogenesis of Alzheimer’s disease, advancing our understanding of how lipid metabolism disruptions contribute to neurodegeneration. ABCA7, a gene encoding a crucial lipid transporter protein, has been previously associated with […]