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Aurora magazine

The blog about the prenatal genetic of latest generation

Identified a hereditary cause of pancreatic cancer

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.


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Dieting cells fights progeria

Progeria is a rare genetic disease that ages before time. Suffering children show the same symptoms as an 80-year-old person, such as brittle bones and heart disease. They usually die within the age of 14 due to a heart attack or a stroke. Dr. Zoe Gillespie has found that dieting cells could slow the process down.

The researcher tested metformin on cells of patients with progeria. It is a drug used for type 2 diabetes that mimics the condition of a body on a diet. According to the study, the cells treated in this way have better functions and live longer.

The discovery could therefore improve the quality of life of other categories of people, such as the elderly and the obese. The drug makes the cells believe that the body is eating less. As a result, the cells enter a state of energy saving and begin to recycle the material already present. This also leads them to use progerin, the protein that causes the disease.

The whole thing slows down the ultra-rapid aging of the cells and could slow down the course of the disease. By applying it to children with progeria, their quality and life expectancy could be increased. The cells would indeed be able to function better and live longer. Furthermore, the drug replaces some of the abnormal chromosomes of the disease.

In this way the shape and the functions of the cells improve further, with a beneficial effect on the whole organism. According to the researcher, a combination of metformin and diet could change the life of those suffering from the disease. However, before therapy is applied to humans, further tests on animal models will be needed.


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Secrets of cellular communication between mother and fetus revealed

A group of researchers from the University of Texas revealed how maternal and fetal cells communicate. Thanks to this information, it will be possible to develop non-invasive tests that monitor the health status of both during gestation. During the nine months, communication between maternal and fetal cells is constant.

The means are bags called exosomes, which contain particular chemicals. Previous studies have already shown that fetal exosomes report to the maternal organism when all the organs are mature. In this way the mother's body can initiate labor and delivery. With the right technologies, these signals could be used to monitor the status of fetal development.

The researchers used guinea pigs with fluorescent exosomes. In this way the proteins they produced and contained in the samples were easier to detect. This allowed them to distinguish between maternal and fetal exosomes, so as to better understand the communications in place. From what has emerged, fetal exosomes are a reliable indicator of the health status of the fetus. To measure them, a sample of maternal blood is enough, which could open the door to a new generation of non-invasive prenatal tests. Furthermore, the analyzes revealed the particular functions of maternal exosomes.

Acting on the mother's exosomes could produce functional changes in the fetus. With the right drugs, it could even prevent phenomena like the preterm parts and everything that goes with it. Specific drugs could be tied to exosomes, so that the placenta can be overcome to prevent fetal inflammation. This would have a positive impact on 15 million pregnancies each year and could prevent 1 million neonatal deaths a year.


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More and more pregnant women are exposed to gadolinium

Gadolinium is a contrast agent used in MRI, not recommended in pregnancy. According to a study by Dr. Steven Bird, more and more women in the early stages of gestation are instead exposed to this substance.

The results could prevent many of these cases, which usually occur when the woman does not yet know she is pregnant. About 45% of US MRIs use gadolinium as a contrast agent. Recent studies show that the body could retain part of the substance even after analysis, with consequences that are currently unclear.

Gadolinium can cross the placenta barrier and enter the fetus's body. Doctors do not yet know how this could affect development; according to some studies, gadolinium could have negative consequences on the fetus. As a result, doctors advise against the use of the substance by pregnant women.

The only exception is when the life of a woman and a child are in danger and MRI is absolutely necessary. The researchers analyzed data collected from 16 FDA's Sentinel System partners, a medical questionnaire program. Out of 4,692,744 newborns, 5,457 were exposed to the substance in the prenatal phase.

The number corresponds to about 1 child every 860 pregnancy. Most cases are related to head, pelvis and abdomen analysis. About 3 cases out of 4 occur in the very early stages of the first trimester, when the woman does not know she is pregnant. The authors of the study suggest submitting a questionnaire to women of childbearing age who need to do a resonance. This way you could ask them if there is the possibility that they are pregnant and, if so, consider alternatives.


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