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Gene linked to male infertility identified

September 17, 2009 By admin Leave a Comment

Washington, Sept 16 (ANI): Scientists from Virginia Commonwealth University have identified a gene that may contribute to male infertility.

The research team hopes that the new findings would lead to new approaches to male contraception.

Sperm are produced in the testicles through a three-step process called spermatogenesis.

During the final stage, known as spermiogenesis, a lot of changes take place, including the packaging of DNA into the sperm head and the formation of the sperm tail, which propels the sperm cell toward the egg.

The study conducted using mouse model showed that mice lacking a protein called meiosis expressed gene 1, or MEIG1, were sterile as a result of impaired spermiogenesis – the process that encompasses changes in the sperm head and the formation of the tail.

The team also found that MEIG1 associates with the Parkin co-regulated gene protein, or PACRG protein, and that testicular PACRG protein is reduced in MEIG1-deficient mice.

PACRG is thought to play a key role in assembly of the sperm tail, and the reproductive phenotype of PACRG -deficient mice mirrors that of the MEIG1-mutant mice.

“We discovered that MEIG1 is essential for male fertility. Moreover, our findings reveal a critical role for the MEIG1/PACRG partnership in the function of a structure that is unique to sperm, the manchette. The absence of a normal manchette in mice lacking MEIG1 totally disrupts the maturation process of sperm,” said Dr Jerome F. Strauss III, dean in the VCU School of Medicine.

“In addition to having an impact on fertility, the discovery identifies a new target for drug discovery for a much needed reversible male method of contraception,” he added.

The study is published in the Early Edition of the Proceedings of the National Academy of Sciences. (ANI)

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Gene discovery may pave way for male contraceptive

April 3, 2009 By admin Leave a Comment

Washington, April 3 (ANI): Scientists are concentrating on a newly discovered genetic abnormality, which appears to prevent some men from conceiving children, in order to develop a male contraceptive.

While female oral contraceptives have been available for about 40 years, the only contraceptives available for men are condoms or a vasectomy.

“We have identified CATSPER1 as a gene that is involved in non-syndromic male infertility in humans, a finding which could lead to future infertility therapies that replace the gene or the protein. But, perhaps even more importantly, this finding could have implications for male contraception,” said Dr. Michael Hildebrand, co-lead author of the study and a University of Iowa (UI) postdoctoral researcher in otolaryngology at the UI Roy J. and Lucille A. Carver College of Medicine.

The male infertility gene was discovered during a study on the genetics of families from Iran – a population that has relatively high rates of disease-causing gene mutations.

Studies on mice lacking the CATSPER1 gene have shown that mutations in it affect sperm motility, specifically the very vigorous hyperactive motion the sperm uses when it is entering the egg during fertilization.

“Our research suggests that the defect in sperm hyperactivity that is seen in mice without CATSPER1 will also occur in humans with the genetic mutation,” Hildebrand said.

“Identification of targets such as the CATSPER1 gene that are involved in the fertility process and are specific for sperm — potentially minimizing side effects of a drug targeting the protein’s function — provide new targets for a pharmacological male contraceptive,” he added.

While many ideas regarding male contraception are being investigated, the researchers say that one approach that may potentially target CATSPER1 is immunocontraception, where antibodies are developed that bind to a targeted protein and block its function.

They, however, noted that immunocontraception is still in early stages of development, and that in order to be useful, it will need to be proven effective, safe and reversible.

The study has been reported online in the American Journal of Human Genetics. (ANI)

Filed Under: Health News Tagged With: antibodies, carver college, college of medicine, contraception, dr michael, fertilization, gene discovery, Gene Mutations, genetic abnormality, genetic mutation, hyperactivity, infertility, infertility therapies, male contraception, male contraceptive, male infertility, michael hildebrand, oral contraceptives, Otolaryngology, postdoctoral researcher, vasectomy

Sperm-binding proteins’ cloning brings new infertility treatments closer to reality

March 18, 2009 By admin Leave a Comment

Washington, March 18 (ANI): Scientists at the University of Montreal and Maisonneuve-Rosemont Hospital Research Center may have reached a step closer to realising novel treatments for infertility, for thy have for the first time cloned important sperm-binding proteins.

The researchers say that their success in producing and purifying a protein key to sperm maturation, termed Binder of Sperm (BSP), may have implications for both fertility treatments and new methods of male contraception.

“We have previously isolated and characterized BSPs from many species, such as bulls and boars,” says Dr. Puttaswamy Manjunath, senior author and a professor in the departments of medicine and of biochemistry at the University of Montreal and a member of the Maisonneuve-Rosemont Hospital Research Centre.

“We know from these studies that if this protein is missing or defective in these species, fertility is compromised. We believe that BSP is equally important in humans,” the researcher added.

In most mammals, BSPs are typically produced by the seminal vesicles and added to sperm at ejaculation. Yet this is not the case for humans, primates and rodents.

Dr.Manjunath says that these species produce small amounts of BSPs only in the epididymis, a duct that connects the testes to the urethra.

“For a few years, we were looking in the wrong place. In addition, the minute quantities of BSP produced in humans has made it impossible to isolate and characterize,” says Dr. Manjunath.

He and his colleagues used molecular biology technique to clone the gene (DNA) that encodes human BSP, which enabled them to produce and purify this protein.

“After considerable troubleshooting, we were able to produce functional human BSP. Our next steps are to confirm its biological role in human fertility,” says Dr. Manjunath.

A research article on the breakthrough work has been published in the journal Molecular Human Reproduction. (ANI)

Filed Under: Health News Tagged With: binding proteins, biological role, boars, breakthrough work, BSP, bsps, epididymis, fertility treatments, human fertility, infertility treatments, maisonneuve rosemont, male contraception, minute quantities, molecular biology, molecular human reproduction, novel treatments, research article, seminal vesicles, University Of Montreal, urethra

Gene linked to male infertility identified

Gene discovery may pave way for male contraceptive

Sperm-binding proteins’ cloning brings new infertility treatments closer to reality

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