Aurora magazine

In the past, geneticists had identified 17 genes underlying long QT syndrome. According to ClinGen experts, there may be far fewer. The researchers analyzed the evidence brought by previous studies, questioning the validity of some of these. From what emerges in the new study, only 3 of the 17 genes would be associated with the most common form of the disease.

It all began 20 years ago, when the New York Times reported the case of three boys who died for no apparent reason. Subsequent studies shed light on a semi-unknown heart disease, which killed around 4,000 young people in the United States in 2019 alone. According to the researchers, the deaths are said to be caused by mutations in the genes that regulate the electrical activity of the heart. All of a sudden, the muscle begins to beat irregularly or stops completely, killing the person.

Long QT syndrome often remains without a diagnosis, unless there have been other cases in the family. In such cases, experts recommend a genetic test for all the victim's closest relatives. This is where the study in question intervenes, which classifies and analyzes the 17 genes traditionally linked to the disease. According to the analyzes, the genes that explain most of the cases are only three: KCNQ1, KCNH2 and SCN5A.

Another 4 genes are linked to a form of the disease found only in infants. The other 10 genes, on the other hand, seem almost completely disconnected: according to the researchers, there is insufficient evidence of their actual role in the disease.

The discovery could improve both the understanding of the disease and its early diagnosis.

Source: eurekalert.org

A team of doctors from all over the world saved a newborn's life. The child suffers from a rare genetic disease which, under normal conditions, kills within a few weeks. Today the boy is 3 years old and is in remission. The article published in the New England Journal of Medicine exposes the efforts of an international team, united in a case of USP18 deficiency. Doctors have developed new genetic diagnosis and immunotherapy techniques to save a Saudi child. The baby should have died a few weeks after giving birth. Instead, he is alive and recovering from the disease.

USP18 is a gene that codes for a protein involved in the immune system, which regulates the reaction to inflammation. When an anomaly is present, uncontrolled inflammations are triggered which kill in the womb or shortly after birth. However, the researchers found that JAK1 inhibitors replace USP18, avoiding the lethal progression of the disease.

The researchers started with a young ICU patient. The little boy showed an abnormal version of USP18. Scientists analyzed it and identified the consequences of the anomalies. From here they traced the functions of the protein, identifying those critical in the progression of genetic disease. This allowed them to identify the drugs needed to keep the baby alive, while looking for more definitive treatments.

After further analysis, doctors started giving ruxolitinib twice a day. Within two weeks, the symptoms subsided and the baby improved. The child will have to take the drug for life, at least until a definitive cure is found. At the very least, he can lead an almost normal life.

Source: mountsinai.org

Long QT syndrome (LQTS) is a genetic disease that affects the heart. When present, it increases the risk of arrhythmias, syncopes and cardiac arrests. The name derives from the prolongation of the QT interval, a specific electrocardiogram parameter. The disease occurs in the first years of life and, if not diagnosed, can lead to death.

The severity of the disease depends in part on the gene involved and the type of mutation. Depending on the variant, it can occur in children or puberty. Furthermore, it can be transmitted in an autosomal dominant or recessive manner. The first is the most frequent variant and is called Romano-Ward syndrome. The second is rarer and often associated with deafness; it is called Jervell and Lange-Nielsen syndrome. In the latter case, both parents are healthy carriers of the disease.

The most common diagnostic method for LQTS is the resting and stress electrocardiogram. Other basic elements are clinical and family history. At-risk children suffer from frequent syncopations and have had cases of arrhythmia. In addition, there have often been cases of sudden death in the family. After the electrocardiogram and anamnesis, genetic tests are carried out to identify the mutation and the most effective therapy in the specific case.

To date, there is no remedial therapy for long QT syndrome. People suffering from it must take beta-blocker drugs that protect them from arrhythmias. In most cases, enough is enough to prevent symptoms. However, the effectiveness may vary depending on the genetic defect and the severity of the disease. In severe cases, it is necessary to resort to the installation of an automatic defibrillator.

Source: telethon.it

Hungary will offer free in vitro fertilization treatments to all couples who need it. This was announced by the Hungarian Prime Minister, Viktor Orban. The measure aims to combat the democratic decline that the nation is going through, which has been getting worse and worse for four decades now.

To date, the birth rate in Hungary is 1.48 children per woman. Like other countries, Hungary is also facing demographic decline with policies to encourage the rise in births. For example, heavy tax relief is provided for women with four children or more. Starting this year, the benefits could also be extended to women with three children. However, further incentives are needed for the Prime Minister.

The current government aims to make population growth the main target of Hungary. This means support for families with many children, incentives for those who have children and aid for those who cannot conceive. Free in vitro fertilization treatments fall within this latter type of policy.

In December, the Hungarian government took control of six fertility clinics. The structures will be managed by the state and will be made available to couples with problems conceiving. Although the launch of the initiative is scheduled for February, it is still unclear which couples will be entitled to free treatments and which ones will not.

Source: bbc.com