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Gene variation linked to infertility in women, study finds
Date:5/16/2011

days after embryo transfer. None of the nine women in the group found to have the mutated SCARB1 had such evidence, meaning none were 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.

Rodriguez, who is also director of the Johns Hopkins Diabetes and Cholesterol Metabolism Center, based her work on research with mice genetically engineered without the receptor for good cholesterol. Without the receptor, the mice had abnormally high levels of HDL in the blood since their bodies were unable to uptake the cholesterol. They were also at increased risk for heart disease, and the female mice were infertile.

The Massachusetts Institute of Technology researchers who studied the genetically engineered mice also found a treatment for their infertility in a cholesterol medication developed decades ago. Called probucol, it lowered levels of cholesterol circulating in the blood and restored the rodents' fertility. The drug is no longer approved for use in the United States, partly because of concerns that it unsafely lowers HDL, but that very "side effect" seemed a good fit for mice with missing HDL receptors. It is available in Japan for use in some conditions.

"I'm an optimist that this drug or one like it could also restore fertility in women," Rodriguez says. "Everything else that was found in mice so far has borne out in humans."

In the very near future, Rodriguez hopes to conduct a clinical trial to see if probucol can help infertile women with the gene variation get pregnant. She is also planning to collect data on HDL levels in infertile women with the genetic variation to see if that would prove to be an early clue
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Contact: Stephanie Desmon
sdesmon1@jhmi.edu
410-955-8665
Johns Hopkins Medical Institutions
Source:Eurekalert

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