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PETBioNewsNewsDiscovery of 42 genes associated with developing Alzheimer's

BioNews

Discovery of 42 genes associated with developing Alzheimer's

Published 7 April 2022 posted in News and appears in BioNews 1140

Author

Paige Mumford

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.

A new international study has found 42 genes associated with an increased risk of developing Alzheimer's disease that had not been previously known...

A new international study has found 42 genes associated with an increased risk of developing Alzheimer's disease that had not been previously known.

Alzheimer's disease is a neurodegenerative disease and the most common form of dementia. A person's genetics plays a large role in their risk of developing the disease; thus, researchers in this novel study were trying to understand the genetics underlying the disease. The collaborative study was conducted across eight different research centres across the world, including the UK where the collaboration was co-led by researchers Dr Rebecca Sims and Professor Julie Williams from the UK Dementia Research Institute at Cardiff University.

Professor Williams said: 'This is a landmark study in the field of Alzheimer's research and is the culmination of 30 years' work. Genetics has and will continue to help us identify specific disease mechanisms which we can target therapeutically. This piece of work is a major leap forward in our mission to understand Alzheimer's, and ultimately produce several treatments needed to delay or prevent the disease.'

The study, published in Nature Genetics, was the largest of its kind, analysing 111,326 Alzheimer's disease cases and 677,663 healthy control cases. Using genome-wide association to identify differences in genetic makeup between the Alzheimer's and healthy control cases, the researchers identified a total of 75 genes associated with an increased risk of Alzheimer's, 42 of which had not been previously linked to the disease.

When the researchers investigated what biological pathways the risk genes were associated with, they found pathways involved in amyloid-beta and tau, two proteins which aggregate in the brains of people with Alzheimer's disease, and pathways involved in microglia, the main immune cell type of the brain.

While the important role of amyloid, tau, and microglia in Alzheimer's disease had been previously known, notably 31 of the newly identified risk genes were associated with biological pathways not previously linked with the disease, including a specific signalling pathway of the protein TNF-alpha, which has an important role in the immune system and inflammation.

With their findings, the researchers were also able to create a new genetic risk score to predict how likely a person with cognitive impairment will go on to develop Alzheimer's disease later in life.

In the future, researchers are able to focus on the novel risk genes identified in this study and try to uncover how they contribute to Alzheimer's disease. Professor Bart De Strooper, the director of the UK Dementia Research Institute at University College London, who was not involved in the study, said: 'Ambitious studies like this are the fuel for the breakthroughs we need in dementia research. They show us that there is still much to learn about neurodegeneration, and continued investment in fundamental, discovery science is key to unlocking the secrets of Alzheimer's and other dementias.'

Sources and References

  • 04/04/2022
    Nature Genetics
    New insights into the genetic etiology of Alzheimer's disease and related dementias
  • 04/04/2022
    UK Dementia Research Institute
    Landmark study reveals 42 new genes associated with increased risk of Alzheimer's disease
  • 04/04/2022
    Alzheimer's Research UK
    42 new Alzheimer's risk genes discovered in major study
  • 04/04/2022
    The Telegraph
    Gene that protects against cancer linked to increased Alzheimer's risk
  • 04/04/2022
    New Scientist
    Genes linked to Alzheimer's may help calculate your risk of getting it
  • 04/04/2022
    The Independent
    Scientists identify 42 new risk genes associated with Alzheimer's disease in 'landmark' study
  • 04/04/2022
    BBC
    Alzheimer's disease research takes 'major leap forward'

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