PAI-1 (PIE) is a gene located on chromosome 7.
PAI-1 gene mutations inhibit fibrinolysis which is the process that degrades blood clots, but also plays a large role in other functions such as ovulation, wound healing, inflammation, etc.
A person can have a normal PAI-1 (5G/5G) or a mutated heterozygous (4G/5G) or a mutated homozygous (4G/4G). When the gene is mutated blood clots do not break down as they should. The most serious mutation is the 4G/4G, which leads to significantly increased PAI-1 activity resulting in decreased fibrinolysis leading to thrombosis.
Got that?
The PAI-1 (4G/4G) mutation is also linked to a higher concentration of PAI-1 levels in the body. Increased levels of PAI-1 have been linked to a number of conditions including thrombosis, diabetes, pregnancy loss, obesity, coronary heart disease and liver disease.
The PAI-1 mutation, especially the 4G/4G mutation has been linked to issues with pregnancy and infertility such as implantation issues, clots in the placenta or cord and IGUR. You can read more about the implications of the PAI-1 mutation and infertility/pregnancy issues here.
According to Dr. Kwak-Kim, PAI mutations and MTHFR mutations often come hand in hand especially in PCOS patients which are heavily concentrated in the infertility population.
You can read more about how Dr. Kwak-Kim has begun treating my PAI-1 (4G/4G) here. My future treatment will depend on my PAI-1 level.
Feel free to reach out to me, if you have any questions. I know finding information regarding PAI-1 is not easy!
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ReplyDeleteHi. I recently found out three months ago I am 4g4g. I went to a specialist and he out me only on baby aspirin. I had one pregnancy may 2015 that ended in a missed miscarriage and haven't been able to get pregnant since. Do you think the aspirin is enough?
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