CCMB identifies mutations in genes that cause male infertility

Hyderabad: Scientists from multiple research institutes including Hyderabad-based Centre for Cellular and Molecular Biology (CCMB) have identified eight novel genes that play a role in male fertility. The researchers have also identified variations or mutations in these genes that cause infertility among males. The multi-institutional study was recently published online in the journal Human Molecular […]

Hyderabad: Scientists from multiple research institutes including Hyderabad-based Centre for Cellular and Molecular Biology (CCMB) have identified eight novel genes that play a role in male fertility.

The researchers have also identified variations or mutations in these genes that cause infertility among males. The multi-institutional study was recently published online in the journal Human Molecular Genetics.

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Dr. K Thangaraj, lead investigator of the study from CCMB and presently Director of City-based Centre for DNA Fingerprinting and Diagnostics (CDFD) said, “we identified a total of eight genes (BRDT, CETN1, CATSPERD, GMCL1, SPATA6, TSSK4, TSKS and ZNF318), that were not known earlier for their role in human male fertility”. He further added that they have identified variations (mutations) in these genes that cause impaired sperm production leading to male infertility.

The researchers have characterized a mutation in one of the eight genes, Centrin 1 (CETN1), to understand how the mutation affects sperm production. They demonstrated the impact of CETN1 mutation in cellular models and found that the mutation arrests cell division, causing insufficient sperm production.

“This study should be a reminder to the society that half of the infertility cases are due to problems in men. And many of them are due to genes that come from the parents, often mothers, of these men. It is wrong to assume a couple cannot bear children because of only the woman’s fertility,” says Dr Thangaraj.

Dr Sudhakar Digumarthi, lead author of the study, who was a PhD student of CCMB and presently scientist at ICMR-National Institute for Research in Reproductive and Child Health in Mumbai, said, “we first sequenced all the essential regions of all genes (around 30,000 of them) using next generation sequencing in 47 well-characterized infertile men. We then validated the identified genetic changes in about 1500 infertile men from different parts of India.”

Dr Vinay Kumar Nandicoori, Director, CCMB said, “the genetic causes established in this study could be used as potential diagnostic markers for male infertility, and development of improved management strategies for male infertility”.

Approximately, one out of every seven couples are infertile worldwide. And, male infertility accounts for 50 per cent of these cases. The cases range from defects in the male reproductive system, deficiencies in semen quality, and hormonal imbalance. Injuries, infections, chronic illness, lifestyle choices and genetic factors can all lead to infertility in males. “We, however, do not yet understand the details of how these parameters control fertility,” CCMB researchers added.