Indian scientists decode the genetic mystery behind infertility in men

HYDERABAD: A group of Indian scientists including those from Hyderabad has for the first time identified a set of eight genes that are responsible for infertility in men in India. The researchers also found mutations in these genes leading to malformed sperm in the Indian male population.
The genes identified for male infertility are new or novel and they were hitherto not associated with reproductive defects in Indian men. The result of the research study was published in the scientific journal, Human Molecular Genetics.
The research team from Hyderabad was drawn from the Centre for Cellular and Molecular Biology (CCMB), the Centre for DNA Fingerprinting and Diagnostics (CDFD) and Mamata Fertility Hospital.
CDFD director Dr K Thangaraj, who is also a senior scientist of the CCMB, said the eight genes they have identified were defective in the men, who are infertilie. “These genes were not known earlier for their role in human male fertility,” Dr Thangaraj said adding that the mutations or variations on these genes cause impaired sperm production leading to male infertility in Indian population.
The CCMB scientists had earlier found that 38% men with infertility have specific regions missing or abnormalities in their Y chromosomes or mutations in their mitochondrial and autosomal genes. But the latest study had focused on the cause of infertility in the rest of the cases, which constitutes the majority of infertile men. The study showed eight novel genes that were defective in these men.
Dr Sudhakar Digumarthi, lead author and scientist at the National Institute for Research in Reproductive and Child Health, Mumbai, said, “We first sequenced all the essential regions of all genes (30,000) 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 the country,” he said.
The eight genes responsible for infertility in Indian men are BRDT, CETN1, CATSPERD, GMCL1, SPATA6, TSSK4, TSKS and ZNF318. As part of the study, the team studied in detail a mutation in the gene CETN1 to find out how it impacts production of sperm. The team found that the mutation in this particular gene stops division of cells and thus leads to insufficient production of sperm.
According to Dr Thangaraj, half of the infertility cases in the country are due to problems in men. “It is wrong to assume a couple cannot bear children because of only the woman’s fertility,” he added.
CCMB director Dr Vinay Kumar Nandicoori said the study could help in developing potential diagnostic markers for male infertility.
Scientists from Jawaharlal Nehru Centre for Advanced Scientific Research, Bengaluru, the Institute of Human Genetics, University Hospital Düsseldorf, Germany, the All India Institute of Medical Sciences, New Delhi, the Central Drug Research Institute, Lucknow, the Institute of Reproductive Medicine, Kolkata, and the Indian Institute of Science Education and Research, Berhampur.

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