Recurrent miscarriages in the first three months of pregnancy in some
women could be a result of genetic mutation. This is the findings of a
new study published in the ‘Royal Society Journal Open Biology’. The
Royal Society Journal Open Biology reported that mutations in the FOXD1
gene could be responsible for half of miscarriages while the other half
could be tied to infections, hormonal balance or immune problems.
Miscarriage, also known as spontaneous abortion and pregnancy loss, is
the natural death of an embryo or foetus before it is able to survive
independently.
Some use the cut-off of 20 weeks of gestation after which foetal death is known as a stillbirth. The most common symptoms of a miscarriage is vaginal bleeding with or without pain. However, recurrent spontaneous abortion (RSA) is the occurrence of two or more pregnancy losses in the initial 13 weeks of gestation and affects one or two in every 100 pregnancies. According to the study, the mutation of FOXD1 was first discovered in laboratory mice.
Five hundred and fifty women, who had been affected by RSA, were examined to find out if they had mutations of the same gene. Two hundred and seventy-one non- RSA patients were used as control for comparative analysis.
The researchers discovered that a majority of women with RSA possessed the gene mutation of FOXD1. However, findings from the control group led scientists to believe that the gene could have protective abilities when in its normal state:
“Our results have also shown that FOXD1 is possibly a new molecular actor modulating pregnancy maintenance, with mutations associated with ER in mice and RSA in humans".
Human fertility, like most biological processes in mammals, is assumed to be the result of subtle interaction of gene variants located in different genomic regions, having a quantitative effect and thus called QTL for quantitative trait loci. The Medical Daily reported that FOXD1 isn’t the first gene linked to early pregnancy loss. The MTHFR gene is an enzyme that is involved in amino acid metabolism in the body.
Common mutations in this gene can affect how a person’s body processes homocysteine, an amino acid found in the blood. Women with MTHFR gene mutations are more likely to have elevated levels of homocysteine — a potential risk factor for miscarriages. These mutations can also lead to a decreased ability to metabolize folic acid and other B vitamins.
Some use the cut-off of 20 weeks of gestation after which foetal death is known as a stillbirth. The most common symptoms of a miscarriage is vaginal bleeding with or without pain. However, recurrent spontaneous abortion (RSA) is the occurrence of two or more pregnancy losses in the initial 13 weeks of gestation and affects one or two in every 100 pregnancies. According to the study, the mutation of FOXD1 was first discovered in laboratory mice.
Five hundred and fifty women, who had been affected by RSA, were examined to find out if they had mutations of the same gene. Two hundred and seventy-one non- RSA patients were used as control for comparative analysis.
The researchers discovered that a majority of women with RSA possessed the gene mutation of FOXD1. However, findings from the control group led scientists to believe that the gene could have protective abilities when in its normal state:
“Our results have also shown that FOXD1 is possibly a new molecular actor modulating pregnancy maintenance, with mutations associated with ER in mice and RSA in humans".
Human fertility, like most biological processes in mammals, is assumed to be the result of subtle interaction of gene variants located in different genomic regions, having a quantitative effect and thus called QTL for quantitative trait loci. The Medical Daily reported that FOXD1 isn’t the first gene linked to early pregnancy loss. The MTHFR gene is an enzyme that is involved in amino acid metabolism in the body.
Common mutations in this gene can affect how a person’s body processes homocysteine, an amino acid found in the blood. Women with MTHFR gene mutations are more likely to have elevated levels of homocysteine — a potential risk factor for miscarriages. These mutations can also lead to a decreased ability to metabolize folic acid and other B vitamins.
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