Aurora magazine

Those suffering from Friedrich's ataxia are 10 times more sensitive to the sun than the average. These people are therefore much more subject to all the damages typical of ultraviolet radiation A. The scientists of the University of Bath have discovered this, and they have also proposed a possible solution: a special sunscreen. Researchers designed a new molecule to add to normal sunscreens.

The modified cream could also be helpful for those suffering from other diseases, such as Wolfram syndrome and Parkinson's. Both diseases in fact lead to an overload of iron in the mitochondria. When exposed to UVA rays, excess iron stimulates the production of free radicals. Among these are the intermediate products of cellular processes of oxygen reduction, which damage DNA, proteins and fats. Normal sunscreens protect against UVB rays, but they do little against UVA. The researchers then created a molecule that collects too much iron in the mitochondria. In this way, just a little 'cream to prevent the sun amplifying cell damage. For the time being, the study authors tested the molecule on epithelial cells of patients with Friedrich's ataxia.

The results look good: exposed to UVA rays, the molecule avoided cell death. Further studies will still be needed: the researchers shoot to create a treatment against ultra-sensitivity to the sun. In this way hundreds of people will earn in terms of quality of life.

Source: bath.ac.uk

About 1 new born in 700 suffers from Down syndrome, which makes it the most common inborn defect. Common prenatal diagnosis tests help to identify it, but they pose different risks to the fetus. That's why non-invasive prenatal screening tests were born, safe for women and for the fetus.

Dr. Zhiyong Zhang's team is looking for a way to make this tool even more powerful. Researchers have identified a biosensor that can be used to diagnose Down's syndrome. For the moment, research is still ongoing, but one day it could lead to new prenatal tests. According to the forecasts of Dr. Zhang, the test will be fast and cheap, for everyone. It will have the accuracy of genetic sequencing without the timing, or at least it hopes.

Scientists used biosensor chips with a molybdenum sulfide base, surmounted by gold nanoparticles. On the nanoparticles they blocked samples of DNA sequences, able to recognize a specific sequence of chromosome 21. At this point they placed fragments of chromosome 21 on the sensors, so that they could identify any anomalies. The first results were encouraging: the biosensors also worked with low DNA concentrations in the samples.

According to the researchers, the method would also be effective for other chromosomal abnormalities. The same method would in fact also be used on chromosome 13, to diagnose Patau's syndrome.

Source: acs.org

The twenty-one Emma attends the faculty of Molecular Sciences in Trento, placed on the social photos taken in the laboratory, dreams of becoming a researcher. A story like so many, it was not that Emma suffers from Friedreich's ataxia and was written to the university just to study it. The affair has moved an entrepreneur in the area, convincing him to donate 336 thousand euros for research.

There are no definitive therapies for Friedreich's ataxia and, over time, those who suffer from it lose the ability to move independently. Emma has been aware of this since she was 12, the age in which she was diagnosed with the disease. Nevertheless, the girl did not give up and put herself on the line. She enrolled at the Integrated Biology Center of the University of Trento, so as to find new treatments for herself and for those who share her fate.

The story of Emma has moved the entrepreneur Gino Del Bon, whose granddaughter suffers from Cornelia de Lange Syndrome. Man knows well the difficulties of those suffering from a rare disease: he could not stay with his hands in his hands. For this reason, he joined the crowfunding campaign on the genomic corrector launched by the university, personally donating 336 thousand euros. Even the family of Emma has decided to get involved.

The parents of the girl have created the association "Every day for Emma", forging a collaboration with the association "For the smile of Ilaria Montebruno". Together they donated € 345,000 to the University of Trento, to study Friedreich's ataxia and other rare genetic diseases. To these were added € 112 thousand donated by many Trentino and people from all over Italy.

Source: corriere.i

Researchers at Trinity College Dublin have for the first time created a model of mitochondrial epilepsy. Thanks to the discovery it will be easier to create new treatments for the disease, one of the most widespread forms of genetic epilepsy.

It is estimated that only in Ireland about 1 new born every 9,000 suffer from this form of epilepsy. It is about a quarter of those suffering from mitochondrial diseases in general. Yet, however widespread, there are no definitive therapies against mitochondrial epilepsy. Conventional drugs also tend to be less effective, which complicates the lives of those who suffer from them. Furthermore, there are no animal models that allow us to study their mechanisms. The lack of models for studying mitochondrial epilepsy is one of the major problems.

That's why the Trinity researchers are committed to developing one in vitro. To this end, they applied special mitochondrial inhibitors to a mini brain. The model obtained presents all the characteristics of the disease and has revealed several previously unclear points. Until recently it was believed that astrocytes played only a supporting role in the brain.

Researchers have shown that they play a central role in mitochondrial epilepsy. The GABA receptors regulate the chemical transmitters released by the neurons, then transported by the astrocytes. When a deficiency of one of the components of this cycle occurs, glutamine, the transmission of the transmitters fails. This perhaps causes epileptic seizures.

It is just a first step and there are still many things to explain. Nevertheless, the creation of a model to be used in research is already fundamental in itself.

Source: tcd.ie