Tuesday, May 24, 2011

Altered gene likely to be associated with infertility in women‎

Scientists from Johns Hopkins University in the USA have discovered a gene that when altered in mice and in humans is correlated with low progesterone levels and unexplained fertility issues in women.

A new study by investigators from Johns Hopkins now suggests that altering of a gene also meant for regulation of cholesterol in the bloodstream appears to affect the progesterone production in women making it a possible wrongdoer in a substantial number of cases of their infertility.

A simple blood test for this variation of the scavenger receptor class B type 1 gene (SCARB1) was also created by the group though it mentioned that there is no affirmed therapy yet to attend the problem in infertile women.

A common link was found between the studies conducted on female mice and the one conducted on women with a history of fertility. In both the cases the link between deficiency in these receptors for HDL i.e the real healthy cholesterol and infertility appeared to be clear. The Hopkins team seems to be positive in tracing the genetic clue to infertility and developing a treatment for it as well if the study moves ahead as expected. The treatment is known to have been effective in female mice.

The study:

As a part of their study Rodriguez and her colleagues collected and examined the ovarian cells and fluid collected from 274 women unable to become pregnant for various reasons and undergoing in vitro fertilization (IVF) between November 2007 and March 2010. Around 207 of them proceeded to have their eggs collected followed by the process of fertilization of the eggs and implantation in their wombs.

2 days after the embryo transfer the scientists had to see for any signs of gestation sac or fetal heartbeat that could be affirmed only by evidence. All the nine women in the group with mutated SCARB1 were devoid of this evidence .This implied that none of them were pregnant. According to Rodriguez the genetic variation could be present in 8 to 13 percent of the population.

Despite being supplemented with progesterone as part of the IVF process, the levels of the same were found to be less in the nine women with the altered gene. Progesterone is crucial for sustaining a pregnancy in the earliest stages.


Firstly I think this is great that scientists are continuing to look for what is presumeably overlooked in many couples dealing with fertility issues. Instead of just shugging their shoulders and saying it is "unexplained" scientists are attempting to help couples go from unexplained to explained.

My job I believe is to help couples make the next step, go from Unexplained to pregnant.

So I think there are a few things that need to be highlighted here.

1) testing for SCARB1 (can be done thru a blood test so ask your doctor if the blood test has become available for you in your area) could give your fertility team more information to suggest what an underlying problem may be and then address areas associated with low progesterone levels, but also keep in mind that only 9 of the 207 subjects showed a mutation in this gene so it was present in less than 5% of the subjects.

2) If there is an altered gene which effects cholesterol and progesterone its important to ask why this might be the case instead of just address the specific components i.e. cholesterol and progesterone. Its important to look up the chain of hormone pathways to determine why this may be an issue and address it at the point where its a problem, not at the end game. For example a medication now banned because of its potentially life threatening effects of lowering the good cholesterol is being considered to use as a treatment.

3) its interesting that scientists are considering trying to alter or overcome an altered gene with medication. Hasn't it been drilled in our head that are genes are our genes and that can't be changed? In comes the field of epigenetics which I believe this study supports. Epigenetics is basically telling us that our future is not presupposed by our DNA and that something outside of the genes and DNA can be responsible for issues with our genes and when these issues are addressed it may improve the situation for the better

So let's talk about what could potentially naturally help improve this or atleast what should be investigated before using a life threatening drug on women who are desperate to try anything to become pregnant. Herbs such as Chaste Tree have been shown to optimise progesterone production. Fish oil may help to optimise HDL levels and subsequently have a positive effect on progesterone since progesterone comes from cholesterol. And since the thyroid and adrenals directly impact progesterone productions herbs such as withania, rhemania and other thyroid and adrenal support may be warranted.

See your health care professional who has experiencing dispensing herbs and looking for natural support of hormone levels to optimise hormone balance. And as discussed having the blood test for SCARB1 may be a good option for you if you have been diagnosed with unexplained fertility issues.