Hyderabad: A group of Indian scientists, including scientists 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, which caused malformed sperm in the Indian male population.
The genes identified for male infertility are new or novel and they were not associated with fertility defects in Indian men until now. The results of the research study were published in the scientific journal Human Molecular Genetics.
The Hyderabad-based research team was drawn from the Center for Cellular and Molecular Biology (Centre for Cellular and Molecular Biology).CCMB), Center for DNA Fingerprinting and Diagnostics (CDFD) and Mamta Fertility Hospital,
CDFD Director Dr K ThangarajiA senior CCMB scientist said the eight genes they had identified were faulty in men who are infertile. “These genes were not previously known for their role in human male fertility,” Thangaraj said, adding that mutations or variations in these genes lead to poor sperm production leading to male infertility in the Indian population.
CCMB scientists previously found that 38% of men with infertility are missing 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 constitute the majority of infertile men. The study showed eight new genes that were faulty in these men.
Doctor Sudhakar DigumarthyLead author and scientist of the National Institute Research in Reproductive and Child HealthMumbai, said, “We first sequenced all essential regions of all genes (30,000) using next generation sequencing in 47 well-characterized infertile males. We then sequenced about 1500 infertile males from different parts of the country. validated the genetic changes identified in the
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 a mutation in the gene CETN1 in detail to find out how it affects the production of sperm. The team found that mutations in this particular gene inhibit the division of cells and thus insufficient production of sperm.
According to Thangaraj, half of infertility cases in the country are due to problems in men. “It is wrong to assume that a couple cannot have children simply because of the woman’s fertility,” he said.
Director of CCMB Dr. Vinay Kumar Nandikuri said the study could help develop potential diagnostic markers for male infertility.
Scientists from Jawaharlal Nehru Center for Advanced Scientific Research, Bangalore, Institute of Human Genetics, University Hospital Düsseldorf, Germany, All India Institute of Medical Sciences, New Delhi, Central Drug Research Institute, Lucknow, Institute of Reproductive Medicine, Kolkata, and Indian Science Education and Research Institute, Berhampur.
The genes identified for male infertility are new or novel and they were not associated with fertility defects in Indian men until now. The results of the research study were published in the scientific journal Human Molecular Genetics.
The Hyderabad-based research team was drawn from the Center for Cellular and Molecular Biology (Centre for Cellular and Molecular Biology).CCMB), Center for DNA Fingerprinting and Diagnostics (CDFD) and Mamta Fertility Hospital,
CDFD Director Dr K ThangarajiA senior CCMB scientist said the eight genes they had identified were faulty in men who are infertile. “These genes were not previously known for their role in human male fertility,” Thangaraj said, adding that mutations or variations in these genes lead to poor sperm production leading to male infertility in the Indian population.
CCMB scientists previously found that 38% of men with infertility are missing 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 constitute the majority of infertile men. The study showed eight new genes that were faulty in these men.
Doctor Sudhakar DigumarthyLead author and scientist of the National Institute Research in Reproductive and Child HealthMumbai, said, “We first sequenced all essential regions of all genes (30,000) using next generation sequencing in 47 well-characterized infertile males. We then sequenced about 1500 infertile males from different parts of the country. validated the genetic changes identified in the
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 a mutation in the gene CETN1 in detail to find out how it affects the production of sperm. The team found that mutations in this particular gene inhibit the division of cells and thus insufficient production of sperm.
According to Thangaraj, half of infertility cases in the country are due to problems in men. “It is wrong to assume that a couple cannot have children simply because of the woman’s fertility,” he said.
Director of CCMB Dr. Vinay Kumar Nandikuri said the study could help develop potential diagnostic markers for male infertility.
Scientists from Jawaharlal Nehru Center for Advanced Scientific Research, Bangalore, Institute of Human Genetics, University Hospital Düsseldorf, Germany, All India Institute of Medical Sciences, New Delhi, Central Drug Research Institute, Lucknow, Institute of Reproductive Medicine, Kolkata, and Indian Science Education and Research Institute, Berhampur.