Aurora magazine

A team of researchers from the University of Cambridge, Great Ormond Street UCL Institute of Child Health and the National Institute for Health Research has identified a new genetic disease that affects the ability to move. The discovery will make it easier to treat certain forms of dystonia, making it difficult if not impossible to control voluntary movements.

The researchers have used the latest DNA sequencing techniques, the same ones that are often used for prenatal screening test. They thus identified a mutation in the gene KMT2B in 28 children with dystonia. The gene in question controls the production of a protein crucial for the control of voluntary movement. From the moment it does not work as it should, problems occur in the expression of other genes responsible for motor functions.

Some of the analyzed patients had received an incorrect diagnosis of cerebral palsy. Because doctors were trying to treat the wrong disease, the subjects did not receive effective treatments for them. Following the newly diagnosed, however, doctors have resorted to ad hoc treatment for patients. They used deep brain stimulation, a technique that involves electrical stimulation of brain regions involved in the movement. The subjects thus treated showed significant and lasting improvements, which in one case lasted six years. Children have expanded their range of movements and some have begun to walk again.

Following the success, the team has suggested including analysis of gene KMT2B between the routine checks for those affected by dystonia. Such an operation could indeed help to identify other cases of wrong diagnosis.

Source: medicalxpress.com

A study by the University of Ohio State, Arthur G. James Cancer Hospital and Richard J. Solove Research Institute reveals that 16% of under 50 suffering from colorectal cancer has some genetic mutations recurring. Some of these mutations affecting genes that normal DNA tests do not touch, leaving behind some subjects at risk. The discovery could then trigger major changes in the control methods used to date.

The researchers analyzed blood samples and tumor tissue taken from 450 patients between 17 and 45 years, who had undergone operations for the removal of the tumor between 2013 and 2016. The traditional screening for colorectal cancer focus of specific genes, which are known to be linked to that form of cancer. The team in question has instead carried out a parallel analysis of multiple genes. It analyzed both genes directly explicable in colorectal cancer, and those associated with other forms of cancer.

The researchers expected to find a very high percentage of Lynch syndrome, a hereditary form of colon cancer. Of 450 subjects, only 36 only showed this mutation, while 34 had only explicable mutations to other forms of cancer and especially breast cancer. 33% of these subjects had no trace of the disease in the family history. This means that in other situations would hardly have made a specific screening for that type of anomaly.

The study shows how the spectrum of relevant genetic mutations for cancer of the colon and rectum is very broad. Much larger than the researchers thought. The team then suggests a genetic screen wide-ranging, as well as identify any predispositions and address them in the bud. Maybe one day could use a similar approach for prenatal screening test, so as to identify the bud any possible danger.

Source: coloncancernewstoday.com

A research of the Autonomous University of Barcelona reveals that pregnancy changes not only the body, but also the head of a woman. Hormonal changes affect the brain from a physical point of view, even reducing the volume of some regions. According to the study, just then an MRI to see if a woman has had children.

The researchers subjected 25 women to magnetic resonance imaging before, during and after the first pregnancy. They then compared the results with the MRIs of 19 men just become father of 17 childless men and 20 women who had never given birth.

The analyzed men showed no change. Pregnant women have instead shown a reduction in brain regions linked to the ability to attribute mental states. This can be associated with a greater difficulty in building a representation of thoughts, feelings, and of its intentions and the others. The resonances have also expressed an increased neuronal activity, which makes pregnant women more susceptible to images of infants.

Research has documented the conditions of women in the following years at first pregnancy. It was found that the structural changes will hold for two years, which allows to recognize the magnetic resonance of a woman who has given birth. But it is not yet clear the reason for these changes.

According to the researchers, there are several possible causes for the alterations to the brain structure. A could be a reduction of synapses, or in the number of glial cells. Another explanation brings into play the amount of blood that reaches the brain. What is clear is that hormonal surges and physical changes also lead to important neuronal changes. In all likelihood, each change has the function of preparing the woman to motherhood.

To check the health of the unborn child can undergo several examinations of prenatal screening, including the fetal DNA testing.

Source: lescienze.it

AIRC has funded a new research project against acute myeloid leukemia, led by the St. Orsola Hospital. The research aims to find a way to block a molecular mechanism that makes the most aggressive cancer. This fact causes a greater resistance to chemotherapy, making it easy to incur relapses.

Today the pediatric acute myeloid leukemia has a recurrence rate of about 30%. At 5 years of diagnosis, it survives only 65% ​​of young patients, often precisely because of a lack of effectiveness of standard therapies. The Bologna team is studying the role of the mobile phone via Hedgehog. The uncontrolled activation of this pathway renders the tumor more resistant to chemotherapy, making it often necessary to transplantation. It also facilitates the reappearance of cancer even years after the apparent cure.

Other projects have identified inhibitors able to block the Hedgehog, at least in vitro. The inhibitors were also tested on adult subjects, with positive results: 30% of the cells are already active death following treatment. The new project aims to investigate the molecular mechanisms that cause the activation of the cell, testing specifically designed inhibitors for children. If all goes well, the project will continue until early 2020.

Source: ansa.it