Aurora magazine

According to a team from the University of Calgary, prenatal exposure to bisphenol A (BPA) could alter brain development. Even the levels considered safe, would instead cause behavioral abnormalities in adulthood.

Bisphenol A is a chemical substance contained in a large number of commonly used objects. It is used for water bottles, paper, ready-made food containers. It is known that in large quantities it interferes with the endocrine system. According to some studies, it would have negative effects on hormones even in smaller quantities. For the first time, researchers highlight a possible link between BPA and brain abnormalities.

The research summarizes the studies carried out on animal models and human beings. A discomforting picture emerges on the effects of prenatal exposure to the substance. Among the children most exposed to bisphenol A in the womb, in fact, there would be a high rate of behavioral problems. Researchers therefore suspect that the substance permanently alters fetal brain development.

To date, global agencies consider the substance to be safe. If the BPA is really so toxic, where are the alleged brain damage? This study is the first to have shown the nature of the anomalies and to have evidenced a possible link with the substance. Embryos exposed to bisphenol A develop more neurons than unexposed ones.

Brain development follows a series of distinct steps. An early development of certain neurons means that they will migrate to the wrong areas of the brain. They will create wrong connections and cause long-term consequences. Prenatal exposure to BPA therefore appears to have permanent effects, similar in guinea pigs and in humans. At least that's what the study says. To confirm this, further targeted research will be required.

Source: endocrine.org

Gardner's syndrome is a genetic disease characterized by intestinal polyps and benign tumors in the colon-rectum. The disease is caused by mutations in the Adenomatous Polyposis Coli (APC) gene. APC encodes proteins that control cell division and their development. The mutation triggers an uncontrolled cell growth, which results in the formation of polyps and tumors.

Gardner's syndrome is a rare disease and affects approximately 1 in 1,000,000 people in the United States. In order for it to occur, it is enough to inherit only one copy of the faulty gene, but it is not always hereditary. On the contrary, the disease tends to appear much more often due to sporadic genetic mutations.

Symptoms of the syndrome can also change a lot from patient to patient. The main feature is the presence of polyps in the colon, which affects about 80% of patients. The other possible symptoms are:

• Polyps in the stomach
• Dental abnormalities
• Tumors of benign bones
• Tumors of the skin and benign connective tissues
• Congenital hypertrophy of retinal pigment epithelium.

Gardner's syndrome can be identified by a simple genetic test, which identifies the mutation in APC. If there are cases in the family, it is recommended to take the test before having children. In addition to genetic testing, the other diagnostic tools are colonoscopy and ultrasound. Retinal lesions and abnormalities in the skin can also indicate the presence of the disease.

Usually the syndrome occurs around the age of 16, but there are cases even around 10 years. If left untreated, Gardner's syndrome leads to the development of malignant tumors around the age of 40. For this reason, those suffering from it perform annual screening. In the case of multiple and aggressive polyps, it is even recommended to remove part of the colon.

Source: news-medical.net

Behind some cases of heart attack, stroke, infertility and kidney disease you could hide genetic diseases still undiagnosed. Researchers at Vanderbilt University Medical Center have found a way to search for genetic data in electronic medical records. In this way it will be easier to identify the presence of genetic diseases in large sections of the population.

The discovery could have important repercussions on the choice of treatments. It is estimated that 14% of those with a genetic variant that affects the kidneys have undergone a transplant. The same is true for a 10% of people with a variant that affects the liver. If doctors had all the necessary information, it would be possible to avoid poorly useful transplants and to focus on other treatments.

The team of Professor Josh Denny searched 21,701 medical records of sets of symptoms related to certain genetic variants. He then scored a score based on his proximity to one of the 1,204 diseases taken into consideration. The higher the score, the more likely the patient would suffer from that genetic disease.

The procedure allowed researchers to isolate dozens of possible cases of undiagnosed rare diseases. Among these, they identified 18 associations between genetic variants and risk score. The discovery also provided new data regarding the nature of some inherited genetic diseases.

According to the researchers, many otherwise inexplicable problems could be related to genetic diseases. Once diagnosed the eventual pathology, finding an ad hoc treatment becomes easier. For this reason, the newly developed process could positively change the lives of many people.

Source: news.vanderbilt.edu

Researchers at the University of Edinburgh have created a map of intelligence genes. It is the most extensive study on this topic and could start real genetic tests of intelligence. Researchers have already used the map to identify 7% of the differences between their intelligences.

Dr. David Hill and Professor Ian Deary started from the genome of 240,000 people in the world. They compared the genetic characteristics of individuals with their results in intelligence tests. In this way they identified 538 genes distributed in 187 regions of DNA. In 2017 a Dutch team had done a similar study, involving 60,000 adults and 20,000 children. On this occasion only 52 genes were identified, thus less than one tenth.

The Scottish study has unveiled that the intelligence genes are also linked to other biological processes. For example, some of these are associated with longevity or migration of nerve cells in various areas of the brain. This would prove the presence of a very close link between intelligence and biological processes.

It was already known how environment and culture can be decisive in the intellectual development of a person. We now also know that physical conditions, health and intelligence could be related. These three factors seem to share at least some of the same genes. The next step will be to determine the degree and type of intelligence of an individual from his DNA.

Source: ansa.it