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

A team of researchers performed a treatment against hypohybrotic ectodermal dysplasia in utero. This is revealed by a study published in the New England Journal of Medicine.

The procedure could significantly improve the lives of those who have inherited this rare genetic disease. Treating the disease still in utero, in fact, would allow you to deal with the symptoms even before they appear. A notable advantage not only in the fight against hypohidrotic ectodermal dysplasia, but also in other diseases. According to Dr. Maisa Feghali, there are many congenital diseases that would benefit from such an approach.

Data from the National Institutes of Health report that 1 in 17,000 people in the world suffer from hypohidrotic ectodermal dysplasia (HED). Those who suffer can not produce the protein ectodisplasina A. This causes fall of teeth and hair, lack of sweat production and therefore propensity to heat stroke. It is a non-lethal disease, but it affects the quality of life in an important way.

The authors of the study carried out a series of preliminary tests on animal models. After these first successes, they moved on to clinical trials on humans. For the time being, they have tested the procedure on a pair of twins and on a third child. In all three cases, prenatal screening tests revealed the presence of the disease.

Twins received treatment twice, at the 26th week and at the 31st week of gestation. The third child received it only at the 26th week. Doctors suspect that the procedure may have anticipated the labor of the twins, who were born prematurely at the 33rd week. On the other hand, in utero treatment seems to have borne fruit in all three cases. At 22 weeks postpartum, none of the three children experienced typical symptoms of hypohidrotic ectodermal dysplasia.

The treatment aims at influencing the development of sweat glands already in the uterus. In theory, this would correct the error even before it manifests itself. Only time, however, will know if the treatment has been decisive.

Source: the-scientist.com

A large number of studies prove the usefulness of genetic tests in the fight against tumors and other diseases. A study by Dr. Forester could also introduce them into psychiatry. The doctor has in fact developed a genetic test that helps to choose the best antidepressant for each patient. The test examines dozens of genes involved in drug metabolism and predicts possible brain responses.

According to the study, the genetic test would be able to predict the effects of more than 50 antidepressants and antipsychotics. Based on these results it would be easier to understand which drugs to avoid and on which to bet. In this way you avoid avoiding the patient from an antidepressant to the other, with negative consequences also for the health.

For the time being, the test is still being tested in 60 US hospitals. Among the 1,167 patients involved in the trial, half took the genetic test and half did not. The results seem to be positive. The test allowed us to choose more effective drugs, with 30% more positive answers than those in the control group. However, the application of genetic tests to psychiatry has dark sides.

The brain is a complex organ. A single genetic test can help, but for now it can not be the definitive answer. Furthermore, it places the physician in front of a series of possible choices. It is up to him and his experience to understand which one is best for the patient. However, that of Dr. Forester remains an important step for precision psychiatry.

Source: wsj.com