Aurora magazine

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

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

Assisted fertilization technologies like IVF seem to leave their mark on genes. In fact, children conceived with these technologies manifest variants of genes, many of which are measurable at birth.

A study published in Nature proves that these signs, however, disappear over time, usually by adulthood. People conceived in this way are even healthier than average. The researchers measured the epigenetic profile of 158 people conceived with assisted reproduction.

They compared it to that of 75 other people, conceived instead in a natural way. Furthermore, they divided the first group into two: those conceived with in vitro fertilization (IVF) and those conceived with the intratubal transfer of gametes (GIFT). Both techniques require stimulation of the ovaries. Scientists analyzed the DNA of adult volunteers - all between 22 and 35 - and when they were children. None of the adults conceived with assisted reproduction showed above-average health problems, although the samples of when they were children showed variations.

Comparing the samples of adults and children, in fact, clear epigenetic changes occurred over time have emerged. Most of the variants that were present as children are absent in the most recent samples. This suggests that they are resolved naturally over time. It is therefore likely that the type of conception does not affect the activity of genes in the long run.

Source: theconversation.com

A study by Dana-Farber / Brigham and the Women's Cancer Center analyzed the DNA of a family with a high rate of pancreatic cancer. Researchers have thus identified a rare genetic mutation, which increases the risk of developing this cancer dramatically. This same mutation could also be linked to other forms of cancer.

Thanks to the discovery, new genetic tests can be developed to assess the risk of getting sick. About 10% of pancreatic cancer cases are linked to hereditary causes, comparable to BRCA mutations in breast cancer. Unfortunately, the genetic mutations in question are not always identifiable.

The new study was able to unravel one of these, which could facilitate the treatment of many cancer cases. Pancreatic cancer is indeed a difficult disease to deal with, especially if identified in the most advanced stages. The family analyzed in the study was affected by 5 cases of pancreatic cancer, in addition to other members affected by different tumors. This immediately led to a genetic predisposition.

The researchers then sequenced the DNA of two cancer family members, one at 48 and the other at 80. In doing so they identified the mutation in RABL3, which they also found in family members affected by other forms of cancer. After analyzing the DNA of the volunteers, the researchers reproduced the mutation in a group of zebrafish. Guinea pigs with the mutated version of the gene had a significantly greater risk of getting sick.

Source: dana-farber.org