Male Infertility Gene NR5A1 Discovered and Blamed in Some Cases

Infertility is a social and financial burden on many families. It is responsible for domestic violence, divorce and polygamy and many more social evils. Couples spend a lot to get it corrected.

There is decreasing fertility in many societies, particularly in educated and working couples. Some tribes in India register higher number of infertile male.

Though there are several causes for male infertility, deficient or absent sperm production is a major cause in otherwise healthy males.

Normal sperm count is above 20 millions/ml. Less than that figure is oligospermia and no sperm is called as azospermia. Besides these; morphology, motility and some other factors may contribute to male infertility.

Now researchers have found that azospermia, oligospermia and morphological defects in less than 5% of cases may be due to defective NR5A1 gene in otherwise healthy males. This gene codes a protein which plays a crucial role for effective action of male sex hormone on testicular tissue.

Many genes are known to be essential for the production of sperm, but there are surprisingly few single gene changes that have been conclusively demonstrated to cause a failure of sperm production in humans.

The team sequenced the NR5A1 gene in 315 healthy men seeking infertility treatment, all of whom exhibited an unexplained failure to produce sperm. Of these, seven had mutations in NR5A1. It is most likely due to mutations in the affected key reproductive genes, altering the levels of the sex hormones.

Though this abnormality counts for small number of male infertility cases, researchers hope to unveil similar defects in the near future and target them.

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