Loss Of Y Chromosome Linked To Onset Of Alzheimer's Disease In Males

Males who lose their Y chromosome have concurrent Alzheimer's disease (AD), a new study has revealed.

Researchers from Uppsala University have developed a test that can identify individuals who are at greater risk of having AD.

Men aged 80 years old and above undergo loss of Y chromosome (LOY), a common gene alteration. To understand the health impact of this gene mutation, Uppsala University's Department of Immunology, Genetics and Pathology researchers conducted a study on LOY in 3,200 men aged 37 years old to 96 years old.

The team is headed by professors Lars Forsberg and Jan Dumanski collaborated with other scientists from Canada, France, Sweden, the UK and the U.S.

They have found that 17 percent of the men have LOY in their blood cells, which were shown to increase with age. They have also established that patients with higher degrees of LOY were presently diagnosed with AD. Researchers also said that LOY testing can be used as a marker for AD progression during follow-up.

The researchers theorized that since women do not have the Y chromosome and the men have generally shorter life spans than women - Y chromosome could be linked to early deaths in men.

While their study point to significant results, further research to back their initial claims must be done. Currently, the team is looking into the functional effects of the genetic mutation and how it could affect the development of other diseases that predominantly affect males. Researchers also plan to expound their study to include mild cognitive impairment.

"The blood cells we studied are involved in the immune system, and the act that LOY in them is associated with disease in other tissues is striking," said Dumanski. This means that the absence of LOY in blood cells causes them to also lose some of their immune function.

Disease Progression And Treatment

Their earlier study on LOY has found that smoking hastens the loss of Y chromosome by 400 percent. They also noted that when smokers quit, the LOY is also reversed. This could be applicable in programs for smoking cessation.

Researchers are hoping that LOY testing can be used as a diagnostic tool to identify the populations at risk, so that disease progression can be prevented during its early stages.

"If we could predict which men have an increased risk of cancer we could watch them closely for the development of the disease and also use appropriate preventive treatments," said Forsberg.

Once this is achieved, mortality rates of males could significantly decline - they may even have the same life expectancy as women.

A past study has found that tau protein can also be used as a marker for early diagnosis of AD.

The study is published in American Journal of Human Genetics on May 23.

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