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Aurora magazine

The blog about the prenatal genetic of latest generation

Prenatal exposure to smog raises the pressure

Prenatal exposure to high levels of fine dust is associated with an increased risk of high blood pressure. This was revealed by a study by Johns Hopkins University, which examined data from 1293 mother-child pairs. The most exposed children to smog in utero had 61% more chance of suffering from high blood pressure. The most affected were newborns born prematurely or underweight.

The nefarious effects of pollution on the fetus were already known. It is known that fine powders act on fetal development and weight of the child. However, the association between smog and high blood pressure is new. For the first time it is shown that breathing polluted air during pregnancy damages the cardiovascular health of the fetus.

Data on mothers and children were collected between 1998 and 2012. Doctors first collected data on the concentration of fine particles in places frequented by pregnant women. As for follow-up, they measured the pressure of children aged 3 and 9. Combining data, it emerged that children's pressure and pollution were proportional. The more fine powders there were in the area frequented by the mother, the greater the risk of high blood pressure for the child.

According to the study, the most significant consequences were recorded with exposure during the third quarter. In this period the fetus acquires a good part of its weight, an element that could also influence the pressure. If this data were confirmed, new criteria could be developed for the early diagnosis of hypertension. To have a clearer picture, however, it would have been useful to acquire data on the pressure of children in the adolescent period.

Source: medpagetoday.com

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19 genetic markers to predict eye diseases

The theme of Professor Stuart MacGregor has uncovered 19 genetic markers related to eye diseases. Thanks to this discovery, early detection of eye diseases such as keratoconus could become easier.

The researchers analyzed the genome of over 25 thousand people. Thanks to the collected data, they discovered many previously unknown genetic variants. According to the study, 45 of these affect the thickness of the cornea and its state of health over a lifetime. How does this relate to keratoconus?

Professor MacGregor explained that the thickness of the cornea is a decisive factor in the development of the disease. This is yet another proof of the genetic origins of the condition, or at least some traits that determine it. In fact, the thickness of the cornea is one of the most related to heredity and less influenced by the environment.

The genetic markers discovered could help both in the diagnosis and in the prevention of keratoconus. In the future genetic tests designed for those most at risk could be developed. This would allow to act in time and at least slow down the degeneration of the disease. However, the discovery is also important for other eye diseases.

The study made it possible to better understand the genetics of some connective tissue diseases. Specifically, he shed new light on Ehlers-Danlos syndrome, fragile cornea syndrome and Marfan's syndrome. These diseases have much more in common than previously thought. They share several genetic markers between them and this could facilitate the development of new treatments.

Source: deccanchronicle.com

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BRCA test also for men?

Breast cancer is very rare in men, but it is still a possible event. Only 1 in 100 cases of breast cancer affects humans, often with far more serious outcomes than in women. If women have now learned to juggle between mammography and self-examination, in fact, this does not apply to men. Most often the disease remains undiagnosed until it is already late.

For men, the possibility of breast cancer remains remote. Nevertheless, the genetic test to detect BRCA mutations could also be useful for them. If there have been cases of breast and ovarian cancer in the family, for example, they may also be responsible for the responsible mutation. This is what Dr. Laura Ottini of Sapienza of Rome is saying.

Every year there are 500 cases in Italy of male breast carcinoma. According to two studies, about 15% of these are caused by hereditary mutations. That's why genetic testing should not be a feminine exclusivity. To fill this gap, the two teams detected genes related to breast cancer in humans. They then calculated a risk index for men who are carriers of mutations.

If the genetic test is successful, prevention is quite easy. Male breast cancer usually appears after 60-70 years and would be relatively easy to diagnose. Just perform self-examination regularly, just like women. At this point identifying a nodule or something strange is simple, given the shape of the male breasts.

Source: corriere.it

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Tanned or seared? The genes decide it

Why some of us become black after a sunny day, while for others it takes very little to burn yourself? The answer lies in our DNA, which regulates the skin's reaction to sun exposure. Italian researchers Mario Falchi and Alessia Visconti of King's College London have discovered the genes that control this mechanism.

For their discovery, the two researchers started from the data of over 500 thousand volunteers. The genetic information was stored in a genetic database. The 500,000 volunteers included 55,000 members of a control group. Among the remaining ones, however, there were 46 thousand people prone to sunburn and 74 thousand able to tan without burning. The participants were all Europeans.

Volunteer DNA analysis revealed 20 regions related to tanning. Of these, 10 had never been connected to this specific area. The researchers took note in particular of a region close to the AGR3 and AHR genes. Abnormalities in this specific region had already been associated with an increased risk of melanoma.

The study showed that the sunburn propensity is a matter of genes. Thanks to the results, the researchers obtained a genetic picture of the types of skin most at risk. A result that is anything but futile: getting very hot during childhood, in fact, increases the risk of skin cancer in adulthood.

Source: ansa.it

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