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Researchers find genetic mutation is significantly linked to male infertility (Health and Nutrition)


Inability to produce measureable amounts of viable sperm is a symptom of azoospermia, a medical condition found in approximately 1% of the male population and responsible for nearly 17% of male infertility cases.

Researchers from the University of Pennsylvania have identified three mutations in a gene called TEX11 – found on the X chromosome, passed down through the maternal line – thought to be significantly linked to the medical condition. 

Dr Wang and colleagues initially showed that disruption of TEX11 function in mice interferes with meiosis (division of genetic material), impeding germ cell development.

In humans, more variations in the TEX11 gene were found in a study group of azoospermic males when compared with a control group, reaffirming TEX11 is likely to be a crucial component of sperm development.

Consequently, mice genetically engineered with the three specific mutations in the TEX11 gene that were found in the human study group are shown to have significantly lower sperm counts when compared to control animals.

It is suggested that these three mutations are responsible for a significant estimated 1% of cases of non-obstructive azoospermia. This research has future implications for genetic counselling as those with these mutations may pass on the genetic defect, through IVF or otherwise.

- Emily Hardy BSc

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