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Aurora magazine

The blog about the prenatal genetic of latest generation

Found the cause of Krabbe disease

Scientists at the Washington University School of Medicine in St. Louis may have found the cause of Krabbe disease. This is a fatal genetic disease, the development of which is still largely a mystery today. Starting from some animal models, the researchers identified the biochemical pathway leading to the disease.

The discovery could lead to the development of possible therapeutic strategies. The disease causes the loss of the protective film of the axons, deteriorated by psychosine. This causes neurological damage and death within 3 years. In fact, those suffering from the disease lack a protein that destroys psychosine. However, it was not clear what the exact source of psychosine was, making it impossible to solve the problem.

The authors of the study found that guinea pigs with Farber's disease were immune to Krabbe disease. Farber is another lethal genetic disease, characterized by the absence of ceramidase. When this protein is missing, psychosine is no longer able to form and nullifies the effects of Krabbe. Even more incredible, mice with both genetic diseases have survived more than the other sick guinea pigs.

Tests prove that ceramidase is the trigger of the disease, which triggers the toxic levels of psychosine. As a result, the researchers administered a protein inhibitor in sick Krabbe mice, usually used in chemotherapy. Mice lived a little longer, though not much. So we can't talk about a therapy yet, but it's still a beginning.

Source: medicine.wustl.edu

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Singapore removes age limits for assisted reproduction

Singapore has eliminated age limits for the use of in vitro fertilization. Furthermore, it eliminated the maximum number of IVF cycles that could be carried out and issued subsidies for assisted reproduction treatments.

The choice of the new government aims to encourage parenting, extending the time frame in which these technologies can be remembered. The maximum limit for resorting to in vitro fertilization was 45 years for women, even for those still technically fertile. With these new measures, the limit disappears.

The same is true for what required a maximum number of cycles, which were rarely enough for older couples. It often happened that women had to abandon therapy before being able to obtain healthy oocytes, effectively negating the efforts already made. One of the major problems of assisted reproduction in Singapore is indeed the prohibition of preserving oocytes. To do this, you need serious medical reasons, such as a tumor.

This makes it harder to get healthy gametes, especially when age starts to advance. The choice has caused some concern in the world. As we age, there are more and more risks for both women and children. The risk of hypertension increases, as does that of chromosomal abnormalities in the fetus. On the other hand, the people of Singapore always get married later and have fewer children. This has led the government to seek a solution of some kind.

Source: theindependent.sg

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Krabbe disease: causes and symptoms

Krabbe disease is a rare and fatal genetic disease. It affects the insulating surface that covers the nerve fibers, myelin, causing serious neurological damage. The most common form (about 90% of cases) occurs within 6 months of age and leads to death within 3 years.

There is also a less common form, which occurs in adolescence or even adulthood. The symptoms manifest themselves progressively. Children are irritable and hypersensitive to sounds. They begin to suffer from recurrent fevers even without infections, accompanied by vomiting and weight loss.

The little ones stop developing, become rigid and begin to regress. As the disease progresses, they lose the ability to move voluntarily. In the last stages they become blind and deaf. Krabbe disease is thought to be linked to alterations in the GALC gene, which encodes the enzyme galactocerebrosidase.

When the enzyme is missing, some substances toxic to the cells start to accumulate in the brain. As they accumulate, myelin deteriorates and causes all the symptoms seen above. Unfortunately, the mechanism is not yet completely clear.

The disease is transmitted in an autosomal recessive manner: both parents must be healthy carriers, so that it manifests itself. Diagnosis is made through clinical observations and instrumental investigations, such as MRI. To confirm it, enzymatic and DNA tests are used. If a couple had already had a child with the disease, they can use prenatal diagnosis.

Source: telethon.it

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Are electronic cigarettes bad for fertility?

The effects of smoking during pregnancy has been known for years. Cigarettes are bad at any stage of life, especially in the early years. But what about electronic cigarettes? A study by Dr. Kathleen Caron analyzed the effects on fertility, focusing on the dangers for young women. According to the data collected, in 2018 only electronic cigarette users under the age of 18 were 3.6 million. In 2017, there were about 2.1 million.

Electronic cigarettes are in fact perceived as safer than traditional cigarettes, being free of tar and other harmful substances. Nevertheless, the long-term effects on health are still unclear. That's why Dr. Caron tested them on groups of guinea pigs of childbearing age. From what has emerged from the analyzes on animal models, electronic cigarettes could damage female fertility.

The guinea pigs exposed to their smoke during the fertile period, in fact, had more trouble conceiving. Their use in the period of conception could indeed delay the implantation of the fertilized embryo, thereby reducing fertility. Furthermore, it could cause long-term metabolic problems in both the mother and the fetus.

What emerged from the study will need further confirmation, as these are preliminary results. However, it seems clear that electronic cigarettes are not completely without health consequences. For future mothers of "vape", therefore, it may be better to give up at least during gestation and in the immediately preceding period.

Source: sciencetimes.com

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