In a new study from Massachusetts General Hospital, researchers used whole-genome sequencing (WGS) to discover rare genomic variants associated with Alzheimer’s disease (AD).
They found 13 such new variants (or mutations).
The finding establishes new genetic links between AD and the function of synapses, which are the junctions that transmit information between neurons, and neuroplasticity, or the ability of neurons to reorganize the brain’s neural network.
These discoveries could help guide the development of new therapies for this devastating neurological condition.
The team previously found genes that cause early-onset (prior to age 60) familial AD (that is, a form that runs in families), including the amyloid protein (A4) precursor (APP), and the presenilin genes (PSEN1 and PSEN2).
Mutations in these genes lead to the accumulation of amyloid plaques in the brain, a hallmark of AD.
In the study, the team performed gene sequencing analyses on the genomes of 2,247 individuals from 605 families that include multiple members who have been diagnosed with AD.
They also analyzed gene datasets on 1,669 unrelated individuals.
The study identified 13 previously unknown gene variants linked to AD. Strikingly, these gene variants were linked to the functioning of synapses, the development of neurons, and neuroplasticity.
The team plans to use “Alzheimer’s in a dish”—three-dimensional cell culture models and brain organoids—to explore what happens when the new mutations are inserted in neurons.
They say doing that could help guide researchers in novel drug discovery.
If you care about Alzheimer’s disease, please read studies about an easier way to diagnose Alzheimer’s disease and findings of this sleep pattern linked to high risk of Alzheimer’s disease.
For more information about Alzheimer’s disease and dementia, please see recent studies about this common drug linked to higher risk of Alzheimer’s disease and results showing that this diet may prevent or even reverse Alzheimer’s.
The study is published in Alzheimer’s & Dementia: The Journal of the Alzheimer’s Association. One author of the study is Rudolph Tanzi, Ph.D.
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