In a path-breaking discovery, the Centre for Cellular and Molecular Biology (CCMB) scientists in Hyderabad have identified genes responsible for male infertility. These genes, if deleted, lead to the failure of Assisted Reproductive Treatment (ART) among men.
Finding out whether the specific genes are deleted or not will save infertile from undergoing expensive ART, especially if there is a chance of failure. This study has been published online on 18 April 2019 in the magazine Scientific Reports.
Approximately, one out of every seven couples is infertile worldwide, of which the males account for about 50% of the cases. Several factors cause male infertility including the complete absence of sperm, low sperm production and motility, abnormal sperm shape and function etc. Genetic factors play a major role in most of the above causes.
Chief Scientist at CCMB and senior author of the study Dr K. Thangaraj’s group at CCMB that has been studying the genetic causes of male infertility found that Y chromosome consists of several genes that are responsible for the production of sperms. Deletions of such genes are the most common causes of male infertility.
"We have earlier identified that the deletion of some genes in Y chromosome is responsible for male infertility in 8.5% of the cases. In the present study, we have studied the micro-to-macro deletions in the Y chromosome and the molecular mechanisms behind the deletion events,” said Thangaraj.
"These findings have potential applications in the infertility clinic. The deletion of parts of Y chromosome that carry sperms often leads to failure in assisted reproduction; so it is useful to screen the infertile men for the gene deletion, before going for assisted reproductive methods," he added.
"We screened 973 infertile men along with 587 fertile men with normal sperm count and motility and detected a total of 29.4% of infertile Indian men carrying deletions," said Deepa Selvi Rani, lead author of the study. She added that the team observed a few unique combinations of deletion events exclusively in Indian infertile men.
Institute of Reproductive Medicine, Kolkata, Institute and Research Centre, Hyderabad, Central Drug Research Institute, Lucknow and Banaras Hindu University, Varanasi participated in the research.