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Aurora magazine

The blog about the prenatal genetic of latest generation

Prenatal exposure to paracetamol reduces fertility?

Taking paracetamol in pregnancy could affect the fertility of the offspring. This is what emerges from an article by Dr. David Kristensen, of the University of Copenhagen. The researcher analyzed three studies on rodents, in which pregnant females took paracetamol. All have shown a decline in the fertility of offspring, especially in females.

Paracetamol is a painkiller commonly used in pregnancy. Recent studies have highlighted possible links to some complications, including fertility problems in offspring. In the tests analyzed, the females exposed to paracetamol in prenatal age were born with less oocytes. This has caused greater difficulties in conceiving, especially going forward with the years. Similar effects may also be present in humans, although further testing will be needed.

For the moment there are no such studies on human beings, so it is unclear whether there is a link between paracetamol and decline in fertility. In order to clarify this point too, it will be necessary to analyze data from human studies. Meanwhile, Dr. Kristensen advises not to overdo paracetamol in pregnancy and seek advice from the doctor in case of pain.

Source: endocrinology.org

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Discovered as the Zika virus causes fetal death

In the presence of a particular antiviral protein, the Zika virus causes the destruction of fetal cells resulting in miscarriage. This is revealed by a study by the Howard Hughes Medical Institute. The protein - a receptor involved in the signals of the immune system - is a probable cause of miscarriage and other complications. The discovery could also have repercussions on those who suffer from autoimmune diseases and can not have a child.

The Zika virus is linked to both birth defects and fetal death. The researchers analyzed the role of signaling proteins called interferons. Interferons are among the most potent antiviral factors in the human body. When the body detects a virus, the cells release interferons that stimulate the immune response. It was already known that adult guinea pigs without interferon-alpha and interferon-beta receptors are more susceptible to Zika virus.

Dr. Iwasi's team analyzed how interferons interact with the Zika virus during pregnancy. Pregnant guinea pigs without the receptor and infected have given birth to infected fetuses. In the guinea pigs, however, there was a higher rate of spontaneous abortions. The cause would have been a mix of structural and molecular changes, which would have led to a deficiency of blood vessels in the placenta.

According to Iwasaki, the interferon receptor could push the body to kill the fetus in response to the alarm signal. It follows that interferon, together with the ability of the fetus to respond to certain infections, could be the cause of some complications even in humans. A similar response to that with the Zika virus would also be present in cases of toxoplasmosis, herpes and lupus.

Source: medicalxpress.com

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Identify new genetic mutations related to CMT

Some mutations in the SACS gene sequence may cause motor problems similar to those found in Charcot-Marie-Tooth disease (CMT). This is revealed by a Brazilian study published on Muscular Disorders.

To date, more than 20 genes have been identified that can be associated with different forms of CMT. Each form of the disease presents different neurological and systemic problems, superimposable with those of other neurodegenerative diseases. Nevertheless, they all share some clinical and biological traits that make it possible to link them all to the same disease.

Those suffering from CMT have a progressive degradation of the axonal section of the nerve cells. This hinders communication between nerve cells and that of peripheral nerves with the central nervous system. All this is manifested by symptoms of motor and sensory character.

In the study "Early-onset axonal Charcot-Marie-Tooth disease two to SACS mutation," a team of Brazilian researchers analyzed the cases of two unrelated men. Both suffered from diseases similar to CMT. At first the Charcot-Marie-Tooth had been diagnosed with them. Nevertheless, neither showed the typical nerve degeneration of the disease.

The researchers performed a complete sequencing of the two men's exome. They found that both patients showed genetic mutations concerning the SACS gene. These mutations had already been linked to the spastic ataxia of Charlevoix-Saguenay (ARSACS), which causes intellectual and physical deficits.

Neither patient showed symptoms typical of ARSACS, despite genetic mutation. In addition, the neuropathy they suffered was very similar to that of CMT, but had never been linked to the Charlevoix-Saguenay.

The finding suggests that mutations in the SACS gene could be associated with axonal sensory-motor neuropathies, but without other neurological symptoms.

Source: charcot-marie-toothnews.com

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Multigenic test predicts the risk of heart disease

Researchers at the Quebec Heart and Lung Institute have developed a multigene test that can predict the risk of heart disease. The new test was much more reliable than the previous ones, based on the search for individual genetic defects. We therefore need to add a polygenic risk score to traditional tests, especially for those suffering from coronary heart disease.

Coronary artery dysfunction is the most common form of heart disease. In some cases, a healthy life is enough to reduce the risk of contracting it. Unfortunately, some individuals suffer from a genetic form of hypercholesterolemia, which increases the chances of early heart disease. In these cases, early diagnosis would be essential, which is not always possible. Many patients do not have a single genetic defect, but a series of anomalies that interact with each other.

The authors of the study analyzed the relationship between multiple genetic abnormalities and heart disease. The polygenic risk score predicted a high risk of heart disease in 1 in 53 individuals. Combining the result with genetic tests for hypercholesterolemia, the number of early diagnoses could be increased fivefold.

The researchers developed the multigenic test starting from 182 genetic anomalies already linked to coronary artery dysfunction. They then compared the polygenic risk score of cardiac patients and healthy people. None of the patients showed the typical genetic defect of hypercholesterolemia.

Source: eurekalert.org

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