Indian scientists decipher the genetic mystery behind male infertility

HYDERABAD: A group of Indian scientists, including those from Hyderabad, have identified for the first time a set of eight genes responsible for male infertility in India. The researchers also found mutations in these genes that led to malformed sperm in the Indian male population.
The genes identified for male infertility are novel or novel and have not been associated with reproductive defects in Indian males until now. The result of the research has been published in the scientific journal Human Molecular Genetics.
The research team from Hyderabad comes from the Center for Cellular and Molecular Biology (CCMB), the Center for DNA Fingerprinting and Diagnostics (CDFD), and Mamata Fertility Hospital.
CDFD director dr. K Thangaraj, who is also a senior scientist at the CCMB, said the eight genes they identified were defective in the males, who are infertile. “These genes were not previously known for their role in male fertility in humans,” said Dr Thangaraj, adding that the mutations or variations on these genes cause reduced sperm production, leading to male infertility in the Indian population.
The CCMB scientists had previously found that 38% of men with infertility lack specific regions or have abnormalities in their Y chromosomes or mutations in their mitochondrial and autosomal genes. But the latest study focused on the cause of infertility in the rest of the cases, which make up the majority of infertile men. The study showed eight new genes that were defective in these men.
dr Sudhakar Digumarthiclead author and scientist at the National Institute for Reproductive and Child Health ResearchMumbai, said: “We first sequenced all essential regions of all genes (30,000) using next-generation sequencing in 47 well-characterized infertile males. We then validated the identified genetic changes in approximately 1,500 infertile males from different parts of the country. the country,” he said.
The eight genes responsible for infertility in Indian males are BRDT, CETN1, CATSPERD, GMCL1, SPATA6, TSSK4, TSKS and ZNF318. As part of the study, the team studied a mutation in the CETN1 gene in detail to find out how it affects sperm production. The team found that the mutation in this particular gene stops cell division and thus leads to insufficient sperm production.
According to Dr Thangaraj, half of the infertility cases in the country are due to problems in men. “It is wrong to assume that a couple cannot have children because of the woman’s fertility,” he added.
CCMB director Dr Vinay Kumar Nandicoori said the study could help develop potential diagnostic markers for male infertility.
Scientists from the Jawaharlal Nehru Center 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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