Aurora magazine

The oldest DNA in Europe is in Sardinia and in particular in the areas of Ogliastra and Barbagia. This is revealed by a research published in Nature Genomics, conducted on 3,514 Sardinians. At the helm of the team was Dr. Francesco Cucca, director of the Cnr-Irgb and professor of medical genetics in Sassari.

The inhabitants of these areas conserve high percentages of the genetic heritage of a particular Neolithic population. Their ancestors were Middle Eastern farmers, belonging to pre-Neolithic hunter-gatherer communities. They lived in Europe as early as 7-10 thousand years ago, even before the Euro-Asian populations that would have spread in the Bronze Age. This makes the Sardinians a population much more similar to the Basques than to the rest of the Italians, at least from the genetic point of view.

The genetic heritage of the Sardinians is a mix of the DNA of the early Neolithic peasants and pre-Neolithic hunter-gatherers. This second type of DNA is the most interesting one. Compared to other European populations, the Sardinians have a higher percentage of pre-Neolithic genetic heritage. In fact, due to the isolation of the island, populations from the Euro-Asian steppes have contributed relatively little to the Sardinian gene pool.

In the rest of Europe, the Neolithic and Pre-Neolithic genetic heritage has been diluted with the generations. In Sardinia, the phenomenon has been more limited. For this reason, scientists believe that Sardinia could be a reserve of lost genetic variants. Some of these could even belong to the Proto-European baseline, almost completely disappeared in continental Europe. Beyond the purely scientific interest, these variations could help us understand and fight certain genetic diseases.

Source: ansa.it

A genetic test could be enough to understand if a myelodysplastic syndrome is destined to reappear. A research from the Washington University School of Medicine in St. Louis studied the methodology. According to the researchers, the test could identify patients at high risk of relapse after stem cell transplantation. In this way it would be easier to intervene immediately with specific treatments.

Traditional methods of monitoring the severity of a tumor are very subjective. For this reason, Professor Matthew J. Walter decided to use a genetic analysis. The goal is to find the abnormal cells more precisely and faster, even shortly after transplantation. In these very early stages, in fact, it is easy for the few cancer cells to hide. It is therefore more difficult to predict a possible recidivism.

Myelodysplastic syndromes are difficult to diagnose. Some individuals live together with them, without ever being diagnosed. In one third of the cases, the syndromes are more aggressive and develop into leukemia and other blood cancers. Many of these prove fatal, mainly because of the speed and the violence with which the tumor develops. The only effective treatment at the moment is stem cell transplantation, which does not always work.

For the study, the researchers sequenced the stem cell DNA of 86 patients with myelodysplastic syndromes. The analyzes took place before the transplant, so as to identify the "fingerprints" of the tumor. A month after the transplant, the researchers have again sequenced the cells of patients looking for traces of the tumor. Patients who presented these traces (53%) ran about 4 times the risk of relapse.

Of these patients, 35 had a recurrence on average 141 days after transplants. The other 51 had no problems, at least in the year of follow-up.

Source: eurekalert.org

Eating fish during pregnancy helps stimulate the development of your child's brain. This is stated by a study led by Dr. Kirsi Laitinen of the University of Turku, in Finland. The research confirms a long list of previous studies linking child development and maternal nutrition.

According to Dr. Laitinen, eating a lot of fish during pregnancy provides a supply of fatty acids to the fetus. The substance stimulates brain growth both in the womb and in the first year of life. In fact, fatty acids help the development of nerve cells in the retina and synapses. As a result, neurons are better connected to each other and messages travel faster in the nervous system.

The researchers examined data from 56 women and their children, who had participated in a larger study. The women had kept a food diary during the gestation period. They had noted the fluctuations in weight, blood sugar levels and pressure. Furthermore, they had marked the possible presence of gestational diabetes and smoking.

The team recorded levels of fatty acids in the diet and blood of future mothers and their babies. For the latter, they analyzed levels at the age of one month and two years. On that occasion, they also assessed the visual system and cognitive abilities. The best results came from children whose mothers ate fish three times a week, especially in the last quarter.

Source: springer.com

A rapid genetic test will help identify a new cause of mitochondrial diseases. The discovery comes from a team of doctors and scientists from the Wellcome Center for Mitochondrial Research at Newcastle University. The researchers identified the genetic mutation in four children, all with problems in the NDUFA6 protein complex.

Mitochondrial diseases are genetic conditions that affect the mitochondria, the "batteries" of cells. Symptoms include muscle weakness, blindness, deafness, diabetes, heart problems. Unfortunately there is no resolution therapy and many patients die in infancy.

The researchers used a genetic test to identify a genetic variant that affects the NDUFA6 protein. This is essential for the proper functioning of the mitochondria. Understanding how the variants act on it is essential to diagnose and combat the disease. If there were already cases in the family, it could be the basis for pre-implantation genetic tests and prenatal diagnosis tests.

For the moment there is no cure for the effects of this genetic variant. On the other hand, Professor Rob Taylor already talks about the genetic test for diagnostic purposes. The discovery will make the current tests more precise, improving the understanding of the disease and giving at least an answer to different families. In addition, it will help to prevent the recurrence of the disease in families who have already suffered a bereavement.

The theme of prenatal and pre-implantation diagnostics is very dear to families with a sick child. In fact, these parents have a 25% chance of transmitting the same disease to the next child. A devastating awareness that a genetic test could fight.

Source: medicalxpress.com