HYDERABAD: In a major breakthrough, the researchers at the CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, have succeeded in identifying eight novel genes that cause infertility in men in India. The two-decade-long multi-institutional study has, at last, borne fruit now with the discovery of these genes.
Dr Sudhakar Digumarthi, lead author of the study, former PhD student of CCMB, and now a scientist at ICMR-National Institute for Research in Reproductive and Child Health in Mumbai said: “We first sequenced the essential regions of all genes (around 30,000) using next generation sequencing in 47 well-characterised infertile men. We then validated the identified genetic changes in about 1,500 infertile men from different parts of India.”
Dr Thangaraj, lead investigator of the study and Director of the DBT-Centre for DNA Fingerprinting and Diagnostics, Hyderabad 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 added that they have identified variations (mutations) in these genes that cause impaired sperm production leading to male infertility. The researchers have characterised a mutation in one of the eight genes,Centrin 1 (CETN1), to understand how it 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 society that half of the infertility cases are due to problems in men. 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,” remarked Dr Thangaraj.
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 to deal with the problem.”