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Aurora magazine

The blog about the prenatal genetic of latest generation

Complications in pregnancy and hypertension: what is the link?

Women who give birth before the term and suffer from pre-eclampsia are twice as likely to suffer from hypertension later in life. In some cases, the phenomenon occurs even less than three years after gestation. This was stated by a study funded by the National Heart, Lung and Blood Institute (NHLBI), conducted on more than 4,000 women.

The discovery could help prevent the risks of cardiovascular problems later in life. Previous studies have already shown that some complications are associated with hypertension and cardiovascular disease. However, the studies in question focused on data collected in retrospect, often with stories reported by the patients themselves.

The study in question, instead, is based on the clinical history of women 2-7 years before gestation. In this way, the doctors verified whether there was a connection between cardiovascular health and the outcome of gestation. The researchers involved 4,484 women. About 31% of those who had complications during pregnancy had chronic hypertension problems in later years. The percentage drops to 17% in the case of women who had no complications.

There is therefore a connection between complications, especially if during the first pregnancy, and hypertension going on with age. According to the author of the study, this should prompt doctors to investigate patients' medical backgrounds. This would allow many women to improve their lifestyle, with positive effects on their health and that of the child.

Source: nhlbi.nih.gov

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Less fertile men are more at risk of cancer

Men with fertility problems are at greater risk of developing prostate cancer. It is suggested by a Swedish study conducted on the parents of about 1.2 million newborns. The researchers examined the data of those who had resorted to assisted reproduction. Thus a higher percentage of cancer cases among less fertile men has emerged.

What is the connection between infertility and prostate cancer? According to the researchers, they could be anomalies on the Y chromosome. Difficulties in conceiving could therefore be an indication of future problems. This could facilitate both the treatment of infertility and the early diagnosis of cancer. When it is man who has difficulty conceiving, we tend to use a treatment called intra-cytoplasmic sperm injection. This involves the direct injection of a sperm into the oocyte and is used among those suffering from severe infertility. Among the study participants who had used this method, the researchers found 64% more chance of getting sick.

Moreover, the risk of getting sick before the age of 55 was 86% greater. Men with higher sperm counts tend to use IVF, which is more effective in these cases. Among these, the risk of getting sick was 33% higher than the average.

The risk of getting sick before the age of 55 was 51% higher. A connection between the gravity of infertility and the risk of developing prostate cancer is therefore evident. According to Professor Alla Pacey, a low sperm count could be a warning signal. Having few spermatozoa could indicate a greater predisposition to cancer. It should therefore push the men in question to change their lifestyle and increase the number of controls.

Source: telegraph.co.uk

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An enzyme is at the heart of Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a changing neurological disorder involving more than 90 genes. An anomaly in just one of these is enough for the disease to manifest itself. Yet, despite the amount of abnormalities involved, the symptoms are always the same.

This makes understanding the biological mechanisms involved even more difficult. However, a study led by Professor Xiang-Lei Yang may have shed a new light on the whole. The study in question analyzes what is in common between the different genetic mutations. In particular, it focuses on enzymes known as aminoacyl-tRNA-synthetase. From what has emerged, they are the largest family of proteins related to CMT.

According to the researchers, enzymes would spread throughout the body, attacking amino acids and preventing them from producing new proteins. A blow to the body, which would block the production of blood, hormones, bones. To test the theory in question, the scientists took samples from a group of patients. In this way they could observe the action of enzymes in their natural environment. Later, they added healthy enzymes to mutated ones. After doing so, they have recovered their functionality.

However, this does not fully explain the involvement of the mutated enzymes in the disease. The researchers then shifted the focus to the form of enzymes, rather than their functionality. Mutated enzymes have a different shape than healthy ones.

They are much wider, with so much exposed surface. This could expose them to unwanted interactions with neighboring proteins, causing the symptoms of the disease. Now all that remains is to examine the different forms of enzymes and deepen the research.

Source: scripps.edu

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The EGFR gene increases survival in case of lung cancer

A mutation in the EGFR gene increases the survival rate in lung cancer patients. Three years after diagnosis, 28% of patients treated with osimertinib were still under treatment. Considerable numbers, if we consider the average survival rate of those suffering from this type of disease. The Flaura study analyzed the responses to osimertinib of patients with non-small cell lung cancer.

The study focused on cases of locally advanced or metastatic cancer, focusing on subjects with a mutation in the EGFR gene. The mutation affects 30% -40% of Asian patients and 10% -15% of European patients. Subjects with the EGFR mutation were particularly sensitive to tyrosine kinase inhibitors. Inhibitors block cellular signaling pathways, preventing cancer cells from orienting their growth.

The drug osimertinib is a tyrosine kinase inhibitor and is based on this principle. Patients in the control group showed a median survival of approximately 31.8 months. Patients treated with the drug reached an average of 38.6 months. Furthermore, at 3 years only 9% of the control group patients were still in treatment. This demonstrates the efficacy of the drug in this specific type of advanced stage cancer, which affects only about 2,150 patients in Italy each year.

Source: repubblica.it

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