Breakthrough Mutation Found to Protect Against Alzheimer’s 

Breakthrough Mutation Found to Protect Against Alzheimer's. Credit | Getty Images
Breakthrough Mutation Found to Protect Against Alzheimer's. Credit | Getty Images

United States – The birth of a cell mutation, which could improve cell function, could protect against Alzheimer’s. Even a person with one special gene mutation that is predisposed to dementia is biological, as reported by Reuters. 

The found mutation has been revealed to protect people who are carriers of APOE4, the gene variant that increases the risk for the occurrence of Alzheimer’s, according to the researchers

A rare dominant mutation enables the synthesis of a more effective humanin (a short protein that has a significant role in cellular functions) inside human cells. 

People over the age of 100 who are carriers of the APOE 4 gene have a higher level of human, which is a myth for early death and Alzheimer’s disease, according to the researchers. 

The hamster produced humanin by the single nucleotide polymorphism (SNP) variant to clean up amyloid beta from the brains of APOE4 lab mice. 

“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,” said senior study author Dr. Pinchas Cohen, dean of the (USC) Leonard Davis School of Gerontology

Researchers in the scientific community have discovered a gene variant corresponding to increased humanin levels, the humanin-P3S type. 

The researchers’ team says this type is believed to be very rare and marks people of Ashkenazi Jewish origin, especially. 

Therapeutic Potential of Humanin 

In view of that, humanin, the power producer of cells which is located in mitochondria, inhibits cell aging and stress process according to a 2023 research presented in the journal Biology. 

This molecule has been discovered to prevent the Brain from the cerebral infirmity and can diminish inflammation and stress, the review claims. It also positively affects sugar metabolism and dysfunctional insulin response, one of the major disorders that type 2 diabetes causes. 

In the new researches, more than 500 of healthy centenarians and near-centenarians as well as their children were studied by the researchers. 

 Breakthrough Mutation Found to Protect Against Alzheimer's
Breakthrough Mutation Found to Protect Against Alzheimer’s

They were able to determine a P3S variant prevalence rate of 12% of Ashkenazi centenarians and less than 0.2% of the general population

Brain function tests among centenarians who were carriers of the APOE4 gene and those who were also carriers of the PS3-humanin gene revealed that the latter group had higher scores than the former one, pointing to the fact that the humanin variant prevented a degradation of this group’s cognitive abilities. 

From 40% to 60% of the patients diagnosed with Alzheimer’s have the APOE4 gene, the Alzheimer’s Association revealed. 

Next, researchers were directed to mice genetically engineered to provide a humanized APOE4 gene. They found that in mice whose brains were depleted with amyloid beta, treatment with humanin produced by the PS3 gene greatly lowered the beta indices in these brains. 

It was learned that the standard humanin therapies did diminish beta amyloid one but the effect was more powerful with the genetic form of humanin than standard humanin. 

Future Directions and Research Implications 

Amyloid-beta plaques feature prominently in Alzheimer’s care. 

Researchers observed that humanin from PS3 is more capable of binding to APOE4; this is what they think. 

 Breakthrough Mutation Found to Protect Against Alzheimer's. Credit | Freepik
Breakthrough Mutation Found to Protect Against Alzheimer’s. Credit | Freepik

“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,” said lead researcher Brendan Miller, a postdoctoral scientist at the Salk Institute for Biological Studies. 

“Our experiments showed that this protein variant could be a reason why some people with the risk-gene avoid Alzheimer’s and maintain good brain health into old age,” Miller added in a USC news release, as reported by Reuters. 

Humanin, discovered by following stem cells driven to help, will be important in the development of Alzheimer’s drugs that target APOE4, according to Cohen. Humanin may also be used to help people combat other diseases related to aging.