A team of researchers fromUniversity of Chicago and Boston University School of Medicine (BUSM) has identified a new gene called MGMT which increases the risk of Alzheimer’s in women. It is a disease that affects over 5.8 million people in the United States alone, while in Italy it is eighth among the countries with the highest number of affected people, it is estimated that 1.4 million of sick, as well 600,000 of which affected by Alzheimer’s and in the world the cases come to about 50 million people affected by dementia, 60-70% of which suffer from Alzheimer’s.
Scientists have discovered some genetic variants that increase the risk of developing Alzheimer’s: the best known of these for people over the age of 65 is the APOE ε4 allele. About 60 percent of people of European descent with Alzheimer’s carry this genetic variant, compared to only 26 percent of the general population.which implies that other genes contribute to the genetic makeup of the disease.
The results of the Research have been published in the scientific journal Alzheimer’s Disease & Dementia: The Journal of the Alzheimer’s Association
Gene MGMT: Here’s what the research revealed
The team of scientists developed genome-wide association research (GWAS) for Alzheimer’s in two independent datasets using different methods: One method focused on dementia in a large extended family of Hutterites, a founding population of Central European descent who settled in the country’s west-central region.
Hutterites are often studied for the genetic determinants of disease because they have a relatively small gene pool due to their isolated island culture. In this study, the people with Alzheimer’s were all women. The second approach, based on evidence suggesting a link between Alzheimer’s and breast cancer, carefully studied genetic information from a national group of 10,340 women lacking APOE ε4. In both datasets, the new MGMT gene was significantly associated with the development of Alzheimer’s disease in women..
“This is one of the few and perhaps the strongest associations of a genetic risk factor for Alzheimer’s specific to women.“, he has declared Lindsay Farrerhead of biomedical genetics at BUSM and senior aurice of the study: “This finding is particularly robust because it was independently discovered in two distinct populations using different approaches. While the finding in the large dataset was more pronounced in women who do not have APOE ε4, the hutterite sample was too small to evaluate this model with any certainty. “
The researchers then further evaluated the MGMT gene using multiple molecular data types and other Alzheimer’s-related traits derived from human brain tissue.. After an in-depth study, the scientists found that epigenetically regulated gene expression (i.e. one of the ways that cells control gene activity without changing the DNA sequence) of MGMT, which plays a role in DNA damage repair. , is significantly associated with the development of the hallmark Alzheimer’s protein amyloid-β and tau, especially in women.
“This study highlighted the value of founding populations for genetic mapping studies of diseases such as Alzheimer’s“, he has declared Carole Ober, Chair of Human Genetics at UChicago and senior author of the study: “The relatively uniform environment and reduced genetic variation in hutterites increase our power to find associations in smaller samples than is required for general population studies. “
“Validating our findings in the larger dataset used by the Boston University group was hugely rewarding and ultimately led to supportive epigenetic mechanisms linking both GWAS result sets to the MGMT gene.“, Concluded the expert.
According to the researchers, this study demonstrates the importance of researching genetic risk factors for Alzheimer’s disease that may be gender-specific. More studies are needed to understand why MGMT affects AD risk higher in women than men.
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