Aurora magazine

Is there a gene responsible for physical activity and is called TFEB. It is a discovery dating back to 2009, but the Telethon Institute of Genetics and Medicine in Naples researchers have discovered a new gene function. In fact, the TFEB gene also regulates muscle activity, a function that could be used against diabetes and obesity.

The gene acts in the event of physical effort and allows to muscle cells to access the energy required, by the expression of specific genes. In addition to this, TFEB controls how the body responds to physical activity and how much energy comes to working muscles. The researchers observed the mice in which the gene was not working: their muscle cells were unable to produce enough energy to power the physical effort. It followed that the mice were not able to sustain physical activity for extended periods. In contrast, mice with more active than average TFEB had an extraordinary resistance.

The discovery could give a major boost in the fight against diabetes, muscular dystrophies and atrophies, obesity. The fact TFEB gene regulates the metabolism and the use of glucose: being able to modulate it would burn more easily the excess glucose, or increase the basal metabolic rate and calorie expenditure. For now the research is just beginning, but the goal is to create drugs designed to act on TFEB.

Source: ansa.it

A study of the National Institutes of Health confirms what many women already knew: Premenstrual syndrome is a real disease. For a long time doctors have considered little more than an imaginary illness, but now they know the causes. The sense of irritability, mild depression and anxiety that affect many women before the loop originate in a genetic anomaly.

The researchers analyzed the molecular mechanisms that underlie the "premenstrual dysphoric disorder", a rare version of PMS. The disorder affects between 2% and 5% of women and the cause would be in the abnormal behavior of a group of genes. The anomaly concerns the genes that control estrogen and progesterone, the main female sex hormones. In optimal conditions, these allow the organism to respond to external stress during the cycle.

The study looked at the DNA of white blood cells of women with a severe form of premenstrual syndrome. major differences emerged compared to the DNA of those, however, he never gave a sign of disorders of the kind. The discovery could lead to the development of specific treatments, to help women who suffer the most disabling version of the syndrome.

They are known to all the negative health effects of secondhand smoke. A Duke Health study, however, focuses on the impact it has on pregnant women. Exposure to secondhand smoke affect the neurological development of the fetus, although it took place before conception.

The researchers exposed the mice to the effects of secondhand smoke, before and after you conceive. They extracted the chemical components of their tobacco smoke and have administered to mice. In this way, they eliminated the stress caused by breathing smoke, which could in turn influence brain development.
The research involved three groups of guinea pigs, divided according to the exhibition period: a first group to be displayed prior to mating; a second to be exhibited in the early stages of pregnancy; third to be exhibited in the latter stages. Then the researchers observed small groups of three to adulthood.

According to the study, the chemical components in tobacco smoke have influenced fetal development in all three groups. All the little fact show damage in the regions that control learning, memory and emotional responses, to varying degrees. The most serious consequences have emerged with exposure to secondhand smoke in the later stages of pregnancy. Nevertheless, even the previous exposure to conception would influence neuronal development in a negative way.
The discovery, if confirmed, could have important consequences for public health. It would be necessary to minimize the risk of exposure to secondhand smoke in all public places.

Source: medschool.duke.edu

They are imposing more and more methods for non-invasive prenatal screening. It speaks specifically of tests that start at a drop of blood of the mother, therefore completely safe for the fetus. For the moment the most common is for Down syndrome, but international research is developing new solutions.

The non-invasive prenatal screening test for Down's syndrome is available in over 60 countries worldwide, including the US and Australia. It is also becoming increasingly popular even in the British and Italian ones in hospitals. A team from the University of Hong Kong is working to create a similar test, it can also identify other monofactorial diseases, or caused by the anomaly of a single gene.

The test analyzes the DNA present in the mother's blood and look abnormal levels of mutations associated with particular diseases. A procedure which, if done in a traditional manner, would require around two weeks. The test developed by the University of China is able to detect the disease at most within the first 10 weeks of pregnancy. This allows parents to take their time for decisions.

In the first trial, the new test has identified the monofactorial diseases of all 12 samples analyzed.

Source: newscientist.com