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Aurora magazine

The blog about the prenatal genetic of latest generation

A special sunscreen against Friedrich's ataxia

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

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A new biosensor for Down syndrome is under development

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

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Take omega 3 during pregnancy and reduce the risks of being overweight

Taking omega 3 supplements during pregnancy reduces the risks of being overweight for the child. According to a study by Dr. Susan Carlson of the University of Kansas, prenatal acid exposure reduces blood pressure. Overweight children whose mothers took omega 3 during gestation have in fact the same levels as normal-weight children.

This obviously does not cancel all the negative consequences related to the condition. A high body mass index (BMI) is linked to a large number of cardiovascular diseases, especially in adulthood. Even obese children can have problems like high blood pressure. Not all, though: those whose mothers have taken large amounts of omega 3 are healthier.

Although suffering from other physical and psychological problems related to being overweight, they have a diastolic and systolic pressure in the average. Dr. Carlson's team followed groups of children exposed to omega 3. Part of the mothers took it during pregnancy, part during breastfeeding or added it to powdered milk. The data showed that intrauterine exposure is the most effective. It may be that it acts on the very mechanisms that bind weight and blood pressure, but it will be necessary to deepen the theme. However, even intake during breastfeeding has its merits.

There is another study that analyzed the effects of omega 3 on blood pressure. This time, the children took the supplements for the first 4 months of life. At 6, they had lower blood pressure.

Source: medpagetoday.com

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Patau syndrome: causes and symptoms

Patau syndrome or Trisomy 13 is a genetic disorder based on a chromosomal abnormality. Those who suffer have an extra copy of chromosome 13 in some cells or all of them. In some cases, the child has even three copies of the chromosome.

This causes abnormalities in the development of the fetus, which often result in a miscarriage. For children with Patau syndrome the chances of survival are very limited. It is estimated that only 10% of children born with this syndrome exceeds the year of life. Many of them even die in the first week of life. The remaining percentage survives longer, but living with serious health problems such as: heart defects; microcephaly; brain and spinal abnormalities; blindness and deafness; intellectual disabilities.

The manifestation of the disease is completely random, therefore untied from genetic predispositions of the parents. From a statistical point of view, however, the more parents are adults the more likely they are to manifest anomalies. After age 35, there are many more risks that gametes will get damaged and cause malformations or genetic diseases. Non-invasive prenatal screening texts can identify the most at-risk pregnancies.

Thereafter, prenatal diagnosis tests confirm or deny the first result, usually very reliable. If the test is successful, there is no resolution therapy against Patau syndrome. All the treatments that exist today are symptomatic, aimed at minimizing the pain and discomfort of the child.

Source: news-medical.net

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