Gene Talk
Published in

Gene Talk

Is Male Infertility Linked To Autoimmunity?

Is Male Infertility Linked To Autoimmunity?


The autoimmune regulator (AIRE) gene is crucial for distinguishing the body’s cells from foreign cells. A recent study has found that the absence of the AIRE gene results in infertility problems in males. In addition, the study found that AIRE deficient infertile mice exhibited symptoms similar to an autoimmune disorder in men. The study further suggests that autoimmune diseases can impact fertility.

The AIRE Gene

The AIRE gene provides instructions for making a protein called an autoimmune regulator. This protein is primarily expressed in the thymus, an organ located near the breastbone. The crucial function of this protein is to protect the body’s cells from foreign invaders. The malfunction of this protein leads to a condition called autoimmunity (inability of the immune system to distinguish body cells and foreign cells, resulting in self-injury).

The AIRE Gene And Male Infertility

Male factors like ejaculation issues, inability to produce healthy sperm and dilated veins around the testicles have been estimated to contribute to infertility to a large extent. The absence of the AIRE gene is one of the determinant factors of infertility. A deficiency in this gene leads to the loss of proteins responsible for sperm production, resulting in infertility.

AIRE-dependent central tolerance is a process by which male fertility is protected by preventing autoimmune attacks on the reproductive targets. An impaired AIRE- dependent central tolerance could lead to male infertility.

The Study: Impact of AIRE Deficiency on Male Infertility

Researchers began by mating AIRE deficient male mice and normal male mice with normal female mice.

The research study made the following observations in the AIRE deficient male mice

- They exhibited reduced mating frequency and fertility
- They took up to two weeks to mate and had poor sperm quality
- Their sperm lacked the ability to produce litters
- Their sperm were unable to produce viable embryos even after in vitro fertilization (fusion of egg and sperm outside the living organisms)

It was also found that AIRE deficient mice had low testosterone levels (male sex hormone), and that their immune system injured their reproductive organs, especially epididymis.

Researchers further made the following suggestions:

- The AIRE gene may play an immune-independent role in the tissues of reproductive organs.
- The relation between the AIRE gene and fertility may provide information about unexplained infertility cases and male autoimmune disorders like autoimmune polyendocrine syndrome type- I.
- By developing specific therapies that target particular immune cells, we could prevent reproductive organs from damage.


- The AIRE gene plays a vital role in distinguishing the body’s cells from foreign cells.
- A recent study on mice has found that deficiency in the AIRE gene leads to male infertility and autoimmune disorders.
- The study found that the AIRE gene plays an immune-independent role in reproductive organs.





Get the Medium app

A button that says 'Download on the App Store', and if clicked it will lead you to the iOS App store
A button that says 'Get it on, Google Play', and if clicked it will lead you to the Google Play store