Sex-specific genes could hold key to Alzheimer ID

Novel sex-specific genes that are associated with risk and resilience for Alzheimer’s disease could provide unique risk profiles for men and women, according to new research.

The study is the first to show there could be specific demntia risk genes that only affect women.

Scientists at the University of Miami found 11 different genes that produce varying levels of risk for, or prot ection against, Alzheimer’s disease in men and women.

The study is the first to show there could be specific dementia risk genes that only affect women.

It is well-known that women are more likely to get Alzheimer’s disease than men, but exactly why has not been clearly understood.

Understanding which genes are associated with Alzheimer’s risk solely in either sex may help experts to develop methods to more accurately identify who is at risk of developing the disease.

Four genes in particular caught the researchers’ attention – MCOLN3 and CHMP2B in men and CD1E and PTPRC in women.

The male genes regulate endocytosis, the process whereby the cell cleans itself through transport of molecules for recycling or degradation. This process may reduce Alzheimer’s risk through reduction of build-up of amyloid and tau – two key Alzheimer disease proteins.

The two female genes are immune response genes, another known Alzheimer process.

These genes could help therapy development by providing gene targets that differentiate Alzheimer’s disease pathology i n men and women.

Dr Brian Kunkle, a genetic epidemiologist at the University of Miami, said: “Understanding the different genetic landscape and risk profiles for Alzheimer’s disease between men and women provides information critical for precision medicine, helps refine targets for therapy, and improves diagnosis and prediction.”

The research was presented yesterday at the Alzheimer’s Association International Conference 2019 in Los Angeles.

Fiona Carragher, chief policy and research officer at Alzheimer’s Society, said: “It’s true that women live longer than men and age is a key risk factor for dementia, but this alone does not account for why there are twice as many women living with dementia as men.

“This study is the first to show that there could be specific dementia risk genes that only affect women.

“We now need to further explore this area to understand how big or small the effect of these genes is.

“Dementia research has had a blindspot when it comes to understanding women’s risk for far too long.

“This is unacceptable and Alzheimer’s Society has recently taken steps to increase gender representation in our funded research to ensure we can discover why this devastating disease continues to affect so many women across the world.”