Researchers claim a genetic mutation may be connected to mental deterioration that cannot be explained by deposits of two proteins linked to Alzheimer’s disease.
A genetic mutation in some persons may be related to mental impairment that cannot be explained by deposits of two proteins linked to Alzheimer’s disease, according to experts.
They believe their findings could lead to novel Alzheimer’s treatments.
The proteins in question are amyloid β and tau. Amyloid forms plaques, while tau forms tangles. Both are prevalent in Alzheimer’s sufferers’ brains, but they can also be found in the brains of elderly people who do not have memory or thinking issues.
In this study, researchers uncovered a gene variant on the sixth chromosome that changes the metabolism of an antioxidant called glutathione. It could be linked to thinning of the cortex of the brain, which plays a role in memory and thinking skills.
The results of the study were published in the journal Neurology.
“Our study identified one significant single nucleotide polymorphism related to cognitive [mental] decline independent of amyloid β and tau protein deposits in the brain,” study author Dr. Yong Jeong said in a journal news release.
“We showed that this genetic variation negatively affects thinking and memory skills, partly because it’s associated with thinning in the cortex of the brain,” he added.
The study included 486 participants, all of whom had amyloid β deposits in their brains. Some had normal thinking and memory abilities, while others had a slight mental impairment or Alzheimer’s disease.
The researchers conducted a genomic analysis to find gene variants linked to mental function that are unrelated to amyloid and tau. They estimated that the single gene mutation explained 5percent of the variance in mental function.
Even while those with the variant had the same amount of amyloid β and tau protein deposits in their brains as those who did not have the gene variant, they performed worse on cognitive tests.
11 percent of people with the gene mutation had normal cognitive skills, compared to 25percent of those without the variant. Mild impairment was detected in 40percent of those with the variation and in 46percent of those who did not have it. In addition, 49 percent of those with the variant had Alzheimer’s disease, compared to 29 percent of those who did not have the variant.
“Deposits of amyloid β and tau proteins in the brain may be required for a diagnosis of Alzheimer’s disease, but the current thinking is that they are not by themselves enough to cause cognitive decline and dementia,” Jeong said.
“Understanding the genetic mechanisms underlying the development of Alzheimer’s may lead to the development of new treatments for this devastating disease.”
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