A new finding that plays an important role in sperm formation may shed light on the issue of male infertility. Howard Hughes Medical Institute researchers think they have uncovered a flaw in the Jhdma2a gene that may be responsible for certain instances of male infertility.
The Howard Hughes team discovered that mice missing the Jhdma2a gene were infertile and produced just a small amount of aberrant sperm. One of the UK's top male fertility doctors had great expectations that the finding will provide some answers as to why certain men are unable to father a kid. Much of the underlying causes of male "subfertility" are still unknown.
Some men are unable to father a kid due to abnormally shaped sperm or an extremely low sperm count. Many studies are looking at genetic abnormalities as the cause of these illnesses. The Howard Hughes team of scientists felt that the Jhdma2a gene is essential for "spermiogenesis," which permits the DNA required to produce an embryo to be compressed into a tight ball within the head of the sperm so that it may break through the egg's outer shell. Spermiogenesis is the penultimate step of sperm maturation in which the cell develops its pseudopod, has the ability to crawl, and becomes capable of fertilizing an egg.
They tested on mice and produced these animals missing the Jhdma2a gene to see whether it may alter sperm production. These mice were discovered to have abnormally tiny testes, a low amount of sperm production, and the inability to generate progeny. Not only did these mice have very tiny testes, but the sperm they generated had strangely shaped heads and tails that were discovered to be immobile. When the sperm was studied under a microscope utilizing dyeing methods, it was discovered that the DNA was not being packed appropriately in the sperm's head.
"Defects in this gene might be the cause of certain instances of male infertility," said Dr. Yi Zhang, the Howard Hughes team's research leader. "Because this gene has a very particular influence on the formation of functioning sperm," he said, "it has enormous promise as a target for novel infertility therapies that are unlikely to disturb other activities inside the body."
Although the Jhdma2a gene has been shown to be important in mice, there is no guarantee that it will have the same impact in people. The team's next major step will be to examine the DNA of infertile males to discover whether it is absent in any of them.
The genes that governed sperm production, according to Dr. Allan Pacey, a senior professor in Andrology at the University of Sheffield and Secretary of the British Fertility Society, were poorly known. "The packaging of sperm DNA into the sperm head is highly distinctive, and we know even less about it." "It would be really beneficial to adapt this study into human guys and investigate whether it may explain why certain men just do not generate healthy sperm and are hence infertile," he added.
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