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Newly Discovered Gene Mutation Offers Protection Against Alzheimer’s Disease

Newly Discovered Gene Mutation Protection Against Alzheimer

United States: In the latest finding, a genetically modified formation that could boost cell functioning has been developed, which will shield people against Alzheimer’s disease.

It would be possible, even along with the presence of another gene mutation, that would work in boosting risk causing dementia.

Know more about the newly discovered mutation

The reported new gene mutation has been found to prevent worsening the damage that occurs with APOE4 mutation, which is responsible for raising the risk of Alzheimer’s.

The protective mutation leads cells to the production of a stronger form of humanin, a protein that is 60 times smaller than insulin, which carries out the essential role in cellular functions.

Individuals who have been born with APOE4 gene typically live to an old age, which means they will survive beyond the average human age although they are more likely to contract the disease, the scientists found.

The humanin being produced by this variant, not only, mobilized amyloid beta from the brains of APOE4-carrying mice but also removed those molecules, the researchers write.

Dr. Pinchas Cohen, a senior study author and dean of the University of Southern California (USC) Leonard Davis School of Gerontology, said, “This new study sheds light on resilience genes that help people live longer and partially explains why some people at high risk for developing Alzheimer’s disease are spared,” as US News reported.’

The gene variation that causes high levels of humanin to be expressed is called P3S-humanin gene, an investigation on the matter revealed.

According to the study, this mutation may be the rarest among those having Ashkenazi Jewish ancestry, researchers said.

Humanin secretion to prevent the aging of cells

Mitochondria, the primary source of cellular energy, secrete humanin to shield against cellular aging and stress on their maturation and breakdown, as proposed by Sirtris Pharmaceuticals and validated in 2023 through a review in the journal Biology.

It has been evidenced in human studies that humans can defend brain health and are harmful to brain cells, such as inflammation and stress, as US News reported.

It further may improve blood sugar metabolism and insulin resistance, the linking steps that lead to type 2 diabetes.

The researchers have used a lot of data, i.e., more than 500 healthy centenarians, near-centenarians, and their children.

Through this study, it came to light that 12 percent of a 100 years or more Ashkenazi descendants had a dominant P3S allele compared to an approximately 0.2 percent in non-Ashkenazi individuals.

The brain function tests among centenarians who also had the APOE4 gene but the PS3-human gene increased their ability to respond to psychometric tests above those without their variant, which emphasized that, with a greater chance of Alzheimer’s disease, the PS3-human gene somehow nullified this risk.

How common is the presence of the APOE4 gene?

As per the Alzheimer’s Association, 40 to 60 percent of those diagnosed with Alzheimer’s have the APOE4 gene.

The researchers used mice that were genetically modified to make a humanized APOE4 gene. They observed that curing with PS3 gene-produced humanin caused lowering of amyloid beta in the brains of the mice, as US News reported.

Moreover, as per the researchers, the cure by using standard humanin protein also led to a slight decrease in amyloid beta. However, the result was more prominent with genetic variants.

Brendan Miller, the lead researcher and a postdoctoral scientist at the Salk Institute for Biological Studies, stated, “This humanin P3S, when made by mitochondria, actually binds the protein product of APOE4 very tightly. This seems to help clear away harmful amyloid-beta, which builds up in the brains of people with Alzheimer’s,” as US News reported.

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