Missing Y chromosome in men increases risk of early death - healing practice

A shorter life due to a missing sex chromosome?

When men suffer from a relatively generalized loss of the male sex chromosome, this leads, among other things, to increased scarring of the heart muscle, which promotes premature death from heart failure. However, sufferers may benefit from an existing drug that counteracts the harmful effects of chromosome loss.

A new study involving researchers from the University of Virginia investigated the causal and mechanistic associations between so-called Y-chromosome hematopoietic mosaic loss (mLOY) and increased risk of premature death and liver-related diseases. 'age. The results can be read in the journal "Science".

The investigation took place partly on mice

With the help of cutting-edge CRISPR gene-editing technology, a special mouse model was first developed for the new study. This model has led to a better understanding of the effects of the loss of the Y chromosome in the blood.

Accelerated age-related diseases

Loss of the chromosome has been shown to accelerate age-related diseases, making animals more susceptible to heart scarring and leading to earlier death, experts report.

Affected animals and fibrosis

According to the researchers, this was not just due to inflammation, but the mice suffered from a complex series of immune system reactions that led to what is called fibrosis throughout the body. According to experts, this could accelerate the development of the disease.

Heart failure due to a missing Y chromosome

The team also looked at the effects of Y chromosome loss in men. Data from the UK Biobank was analyzed for this purpose. Researchers have found that the loss of the Y chromosome is linked to cardiovascular disease and heart failure.

With the loss of chromosomes, there was also an increased risk of death in men.

Women generally live longer than men

On average, women in the United States live five years longer than men, researchers report. Loss of the Y chromosome affects around 40% of men by the age of 70 and has a negative impact on life expectancy, which could explain why women tend to live longer than men.

“Especially after 60, men die faster than women. It's like they age faster biologically," study author Dr. Kenneth Walsh says in a press release. The new study provides clues as to why men have a life expectancy shorter life than women.

Loss of chromosomes due to tobacco?

Females carry two X chromosomes. Males, on the other hand, have one X chromosome and one Y chromosome. However, as males age, many males lose their Y chromosome in part of their cells, which seems to be particularly prevalent among men who smoke, according to the team.

Loss of the Y chromosome is not transmitted

The loss occurs mainly in rapidly changing cells. Researchers cite blood cells as an example. It is important to note that loss of the Y chromosome does not occur in male reproductive cells. Thus, the loss of the Y chromosome cannot be transmitted.

Alzheimer due to a missing Y chromosome

Previous studies have observed that men who lose their Y chromosome are more likely to die at a younger age and develop age-related diseases such as Alzheimer's disease.

However, the new findings provide the first clear evidence that chromosome loss directly has harmful effects on men's health, experts report.

A longer and healthier life for men

The findings also suggest that targeting the effects of Y-chromosome loss could help men live longer, healthier lives, the researchers said.

As a possible treatment option, Dr. Walsh the drug pirfenidone. This has already been approved by the Food and Drug Administration (FDA) for the treatment of idiopathic pulmonary fibrosis, which is a form of scarring in the lungs.

In addition, it is already being tested whether pirfenidone is suitable for the treatment of heart failure and chronic kidney disease. In both diseases, tissue scarring is a hallmark, experts say.

doctor Based on the new study results, Walsh thinks men with Y-chromosome loss may respond particularly well to pirfenidone and other classes of anti-fibrotic drugs that are in development. However, more research is needed to confirm this.

Inexpensive test can detect Y chromosome loss

Until now, it has been difficult to determine which males are affected by Y chromosome loss. There is already an inexpensive polymerase chain reaction (PCR) test that can be used to detect Y chromosome loss. However, its use has so far been largely limited to the laboratory of Dr. Walsh's limited research group.

However, this may change in the future. “If interest in this test continues and it proves useful in prognosing male diseases and can lead to personalized therapy, it could become a routine diagnostic test,” adds the doctor. (as)

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This text corresponds to the specifications of the specialized medical literature, medical guidelines and current studies and has been verified by health professionals.


Soichi Sano, Keita Horitani, Hayato Ogawa, Jonatan Halvardson, Nicholas W Chavkin, et al. : Hematopoietic loss of the Y chromosome results in cardiac fibrosis and mortality from heart failure; in: Science (published Vol. 377, n° 6603, 2022-07-14), ScienceUniversity of Virginia Health System: Loss of male sex chromosome leads to early death for men (published 2022-07-14), University of Virginia Health System

Important Note:
This article contains general advice only and should not be used for self-diagnosis or treatment. It cannot substitute a visit to the doctor.