Aurora magazine

The Opitz syndrome is a rare genetic disorder that causes mental retardation and multiple congenital anomalies. It affects about 1 per 1 million and there are 40 known cases in the world. Those who suffer from it have eyes too far apart, broad nasal bridge, malformations in the larynx and pharynx. In male genital organs develop abnormally. These defects cause problems in swallowing and breathing and, sometimes, deficits in mental development.

Before the discovery of the University of Barcelona, ​​the only gene linked to the disease was MID1. The gene is on the X chromosome, so the disease is probably transmitted through the mother. Usually symptoms occur only in males, while females are mostly healthy carriers. Some of them have widely separated eyes, but nothing else. However, there are cases of autosomal dominant inheritance, where the mutated gene is dominant. It follows that the parent has a 50% chance of transmitting the disease to their children, both boys and girls.

To date, the diagnosis is made by observation of clinical features. Is there a genetic test for abnormalities MID1 gene, but some patients do not have the mutation. For this reason, the test is not quite value for prenatal diagnosis. The routine prenatal screening tests can, however, identify certain of its defects of the disease. If there are cases in the family, in addition, you can search for causing mutations in the fetal DNA by CVS.

The lack of knowledge of Opitz syndrome makes it difficult to draw decisive therapies. The 50% of children die from complications during childbirth. In the other 50% of cases, it agiscecontro the manifestations of the disease, so as to improve the quality of life of patients. Where necessary and possible, doctors recommend surgery to reduce defects. The reduction of some malformations may decrease some side symptoms, related to the respiratory system.

There are 40 people worldwide suffering from Opitz syndrome C. A team from the University of Barcelona and the CIBERER has identified a gene that causes the disease. It is a first step in understanding the genetic basis of the syndrome. To date, in fact, there is no treatment or prenatal diagnostic test for the disease.

The genetic causes of Opitz C syndrome are still almost completely unknown, partly because of the rarity of the disease. It is thought to be related to a mutation inherited from the maternal side. At the moment, therefore, the diagnosis is purely clinical and based on symptomatology present in varying degrees in the identified patients. In many cases, the symptoms coincide with similar conditions such as Schaaf-Yang syndromes, Bohring-Opitz syndrome and Prader-Willi. This makes it impossible for the time being also a prenatal diagnosis.

In the new study, researchers have described for the first time a mutation in this gene MAGEL2. It is located in the Prader-Willi region on chromosome 15. The discovery opens the door to new studies on the disease and the development of tests to detect these chromosomal abnormalities during pregnancy.

Scholars have found the mutation in the only person affected by the syndrome in Catalonia. It coincides with the anomaly of a patient suffering from Schaaf-Yang syndrome, a rare disease that affects 50 people in the world.
Source: medicalxpress.com

A team of Guangzhou Medical University and State Key Laboratory of Proteomics has used the genetic editing technique CRISPR-Cas9 of human embryos. Success is for part-time, but it marks a turning point in the search. It is indeed the first time that scientists use genetic editing of normal egg cells.

Until now all attempts of genetic editing had been done on embryos that would never have been able to develop. In these cases, the correction was successful in only one cell out of 10. The Chinese researchers have instead used the technique of normal human cells, fertilized with sperm affection of two genetic mutations. In 3 cases they have been successful, while in others they have eliminated only partly mutation.

The first mutation was used for testing the G1376T, present in the gene for G6PD enzyme. The disturbance causes a widespread form of hemolytic anemia in China. Thanks to the CRISPR, researchers have completely removed the anomaly in 2 embryos, partially in one and not at the last. The second mutation was instead Beta41-42, due to beta-thalassemia. In this case, scientists have obtained 1 embryo devoid of the anomaly, 2 mosaic embryos and 1 sick embryo.

In the case of certain types of genetic diseases, mosaicism could be enough to have a healthy individual. For example, the metabolic liver diseases require only 20% of healthy cells because the organism functions in a normal manner. Some scientists speculate that, however, it is avoidable by modifying the genome of sperm and eggs prior to in vitro fertilization.

Although the results are valuable for research, you will still need a long way before use of CRISPR clinician. Today, the fetal DNA tests are designed to identify potential genetic disorders in the first few weeks of pregnancy. In the case of hereditary and very serious diseases, preimplantation genetic testing even allow you to select only healthy embryos. For the moment, this remains the only way possible in many cases.

Source: lescienze.it

Researchers at NYU have created a genetic test to prevent cervical cancer aggressiveness. To do this, they classified the molecular biology of uterine carcinosarcoma. Thanks to these genomic information, doctors can determine the genetic fingerprint of each patient's tumor. It will therefore be easier to find the treatments that are best suited to you.

Although all uterine carcinosarcomi share certain genetic traits, each case is different. The own genetic abnormalities of these tumors in fact hold a large number of roles in the biology of cancer. For their part, anticancer drugs tend to work against a specific target gene. This means that are effective in some cases but not in others, precisely because of the variety of possible mutations.

The researchers identified the molecular roots of uterine carcinosarcoma with genetic analysis, epigenetics, transcriptomics and proteomics of 57 women tissues. From the samples they received about 60,000 individual characteristics, traceable to 9,149 genetic mutations. From this information, they identified 5 genes common to almost all cancers. In this way they created a genetic atlas of the disease, in which appear all its genetic variants.

The variety of combinations found explains why it is so difficult to treat this disease. It is estimated that only 1 in 3 women will survive more than five years after diagnosis. Of the women involved in the study, 64% had recurrence during the follow-up period of 25 months. 58% of them died during the study. These numbers make it clear why it is so important to identify treatments designed for each individual case.

The team compared the data with those of other types of cancer. The comparison showed that the uterine carcinosarcoma may be linked at the molecular level to completely different tumors. More piece of information, which could facilitate the search for new therapies.

Source: sciencedaily.com