Aurora magazine

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 research on the role of a protein in brain development has revealed new genetic causes of behavioral disorders. During the study, researchers at Baylor College of Medicine and Texas Children's Hospital got a guinea pig with clinical symptoms of neurological disorders. The mouse has revealed the genetic causes of the neurological condition of five patients without a diagnosis until yesterday.

The team was studying the connection between an increased function of ATXN1-CIC complex and the development of neurological problems. To get an idea of ​​the role of the protein complex in a normal brain, they decided to analyze even the opposite situation. They then created an animal model lacks the genes involved in the formation of ATXN1-CIC. The mice thus obtained showed signs of hyperactivity, learning disabilities and abnormal social behavior.

The researchers removed the protein from various regions of the brain of mice, so as to analyze the different effects of the transaction. Changes limited in the cortex region are enough to cause a strong hyperactivity in mice. Involvement of the hypothalamus and amygdala, however, resulted in deficits in social interactions. These behaviors are very similar to those seen in people with autism spectrum disorders.

The observation of behavioral abnormalities in mice led to seek a parallel with humans. The researchers used an online database designed for research on rare diseases, called GeneMatcher. They tried subjects with abnormalities in genes related to the formation of ATXN1-CIC and found five individuals. People with the genetic abnormality suffering from behavioral disorders, intellectual disabilities, autism spectrum disorders. They were all free from diagnosis.
The discovery revealed a new possible genetic cause for some major neurological disorders. He also gave an answer to five patients waiting for a diagnosis. This will allow to study new prenatal diagnostic techniques and not for behavioral disorders, as well as to develop new treatments.

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

Scholars of the Johns Hopkins Research Center have identified a hormone imbalance at the base of postpartum depression. The study involved a small group of women with a history of mood disorders behind. According to the analysis, hormone deficiency allopregnanolone in the second trimester of pregnancy is associated with increased risk of postpartum depression. The discovery could lead to development of specific tests to prevent the disorder.

Many previous studies had denied the correlation between postpartum depression and specific hormonal imbalances. They'd rather linked the phenomenon to a certain individual vulnerability, impossible to prevent with medical tests. The Johns Hopkins study focused on the most at-risk women, those with a diagnosis of past mood disorders.

The study involved 60 pregnant women between 18 and 45 years, backed diagnosis of major depression or bipolar disorder. Nearly 1 in 3 had been hospitalized for complications due to mood disorders. The 73% of them suffered from more than a mental illness. During the study, 76% of women was making use of psychotropic drugs, including antidepressants and mood stabilizers. Almost 75% have suffered from depression at one point of the study, both during pregnancy and shortly after.

During the second and third quarter, the participants made a mood test and provided a blood sample. The doctors have used blood samples to measure the levels of progesterone and allopregnanolone. The latter is a hormone secreted by the collapse of progesterone levels, it has a calming function. The analysis showed that there is no correlation between the levels of progesterone and postpartum depression. The researchers, however, found a connection between depression and lower levels of alloprenanolone in the second quarter.

According to the study, hormone levels early in pregnancy may indicate an increased risk of postpartum depression. In the future it could then study how to integrate the missing alloprenanolone and avoid the risk.
Source: hopkinsmedicine.org