Researchers from John Hopkins University have identified a gene variation that, according to a recent study, may be the cause of a substantial number of infertility cases.
Researchers have known that this specific gene variation is involved in regulating cholesterol in the bloodstream, and now it appears to also affect progesterone production in women.
Progesterone is commonly used as a part of hormone replacement therapy by decreasing the amount of estrogen in the uterus or it may work to bring on menstruation by replacing the natural progesterone that some women are missing.
The John Hopkins researchers first linked a deficiency in this specific gene variation and infertility in a study involving female mice, then translated those findings into a study of women with a history of infertility.
The researchers are hopeful that this may bring about happy news for a lot of couple struggling to have a child.
“If the new study’s findings hold up on further investigation, the John Hopkins team says they not only will offer clues into a genetic cause of some infertility, but could also lead to a treatment already shown to work in mice,” according to a University press release.
Fertilitytoday.org stated that the incidence of infertility is estimated to affect at least 11 percent of couples of reproductive age – representing over 10 million couples in the United States –and that number continues to rise each year.
Exact reasons for infertility are not easy to explain; it is a complex condition with numerous potential causes. Reasons for infertility vary for each couple.
“Right now, the benefit of this research is in knowing that there might be a genetic reason for why some women have difficulty getting pregnant. In the future, we hope this knowledge can be translated into a cure for this type of infertility," said Annabelle Rodriguez, M.D., an associate professor of medicine at the Johns Hopkins University School of Medicine and the leader of the study published online in the journal Human Reproduction.
After researchers identified this gene variation and its affect on infertility in mice, Rodriguez and her team analyzed ovarian cells and fluid collected from 274 women unable to become pregnant for various reasons. The women underwent in vitro fertilization (IVF) and some 207 of them went on to have their eggs collected, fertilized in a test tube and implanted in their wombs.
It was discovered that nine women in the group had the mutated SCARB1 gene variation and none of the nine got pregnant.
Rodriguez says she believes the genetic variation could be present in 8 to 13 percent of the population.
The researchers also showed that the nine women with the altered gene had low levels of progesterone, a hormone critical to sustaining pregnancy in its earliest stages, despite being supplemented with progesterone as part of the IVF process.
The researchers are on to something and hope to start clinical trials for a drug that may help women who have this gene mutation.
Gene variation linked to infertility in women, study finds
http://www.eurekalert.org/pub_releases/2011-05/jhmi-gvl051611.php
John Hopkins Medicine
http://www.hopkinsmedicine.org/news/media/releases/gene_variation_linked_to_infertility_in_women_study_finds
Progesterone
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0000261/
Fertility, Infertility
http://www.fertilitytoday.org/infertility.html
Reviewed May 18, 2011
Edited by Alison Stanton
Bailey Mosier is a freelance journalist living in Winter Park, Florida. She received a Masters of Journalism from Arizona State University, played D-I golf, has been editor of a Scottsdale-based golf magazine and currently contributes to GolfChannel.com. She aims to live an active, healthy lifestyle full of sunshine and smiles.