Aurora magazine

High pressure during pregnancy is one of the biggest risks for mothers and children. According to a study by the University of Massachusetts, it could be avoided by turning off some placental genes. The technique is called RNA silencing and has already given good results in primates. The guinea pigs treated in this way are back to normal values ​​in a short time.

The condition is called preeclampsia and affects over 10% of expectant mothers. The pressure too high can damage kidneys and liver, cause strokes and convulsions. In the worst cases the only way to stop it is to anticipate the delivery. This puts women in the position of having to choose between their own health and that of the child, with serious psychological consequences.

Preeclampsia occurs when the placenta stops functioning properly. To compensate for this and increase the blood supply, it releases proteins that increase the woman's pressure. In this way the fetus manages to get the right amount of oxygen and nutrients, at the price of maternal health.

Treating preeclampsia is not easy. Researchers must take into account both the health of the mother and that of the fetus, avoiding the occurrence of possible malformations. Acting on the genes that cause placenta malfunction seems to be the safest approach for both parties. In fact, the technique destroys the RNA molecules that drive the production of the protein that causes the disease.

For the time being, researchers have tested the approach on mild forms of preeclampsia in baboons. They injected the treatment into 3 out of 9 guinea pigs, reducing their pressure levels and damage to internal organs.

Source: newscientist.com

DNA can predict a patient's response to certain antipsychotic drugs. This is revealed by a study by the Feinstein Institute for Medical Research. The finding could significantly influence current pharmacological therapies against schizophrenia.

Schizophrenia is a psychiatric illness characterized by hallucination and disorganized behavior. Usually it is treated with antipsychotic drugs, but the choice of therapies is done without the laboratory test guide. Often one proceeds by trial, changing medication when the one in use proves to be ineffective. Patients are therefore struggling to find their emotional and even professional stability.

The team of Professor Todd Lencz used genetic tests to predict the response to drug therapies. For the study involved patients who had been diagnosed with the first episode of schizophrenia. They analyzed the entire genome, looking for thousands of genetic variants related to the disease. At a later stage, they used the results to score the treatment response.

The results open the door to precision medicine in psychiatry. The team's hope is to expand the study by applying genetic tests to therapies for other psychiatric illnesses. In addition, genetic tests could be used in combination with other types of tests, such as tacs and magnetic resonances.

The goal is to guarantee the thousands of people suffering from psychiatric illnesses personalized and safe treatments. In the future, it may become possible to immediately understand which drugs give the most chance. In this way, patients could live a relatively normal and at least more stable life.

Source: medicalxpress.com

Myotubular myopathy is a genetic disease that causes complete paralysis. It leads to death within two years of age and at the moment there is no treatment or cure. However, researchers at the University of Geneva and the University of Strasbourg have found a possible path.

Researchers have identified a molecule that reduces disease progression and increases life expectancy, at least in animal models. It is called tamoxifen and is already used in the treatment of breast cancer. The next step will be to start clinical trials, so as to verify their effects on children suffering from myotubular myopathy.

A gene therapy study is currently underway. But before human experimentation can take place, it will still take years. This is why scientists have looked for a possible alternative among the molecules already used in other treatments on humans. In this way, the possible transition to a treatment available to all will be shorter.

Tamoxifen has been used in the treatment of breast cancer for years. The molecule has several interesting properties, among which a protective action towards the muscle fibers. Furthermore, it is antioxidant, anti-fibrotic and protects mitochondria. For this reason, a study still underway is being used in the treatment against Duchenne dystrophy with excellent results.

Scientists administered oral tamoxifen daily to a group of guinea pigs. During the study they tested different dosages, including the one used in breast cancer. The untreated mice lived an average of 45 days. With the lowest dose the average life was 80 days, 120 days with the intermediate dose and 290 with the highest dose. Some subjects of the last group have even reached 400 days.

Source: unige.ch

X-linked myotubular myopathy is a rare genetic disease that affects 1 child per 50,000. It is a neuromuscular disease that only affects males and manifests itself from birth. The newborn is weak and struggles to breathe. In some cases, there are even prenatal symptoms, such as the almost absence of fetal movements.

After an initial clinical observation, the child's chest radiograph is taken. This reveals the thinning of the ribs. Other indications are the excessive body length, the skull too large, the paralysis of the muscles of the eyeballs. Some patients experience vascular lesions at the level of the liver and a thickening of the pyloric channel, but only in those who live longer.

Most of the healthy women carriers are asymptomatic, except for some small clues. Healthy carriers tend to be weak and may experience urinary incontinence. This is due to a smooth muscle involvement.

Myotubular myopathy is caused by mutations in the myotubularin gene. Diagnosis is based on clinical analyzes, muscle biopsies and genetic tests. If there are cases among the known relatives, the doctors recommend genetic counseling to the whole family.

Unfortunately, to date there is no decisive cure or effective treatment. Doctors attempt a multidisciplinary approach, at least to stem the symptoms of the disease. Even in this way, the course proves to be fatal in the first months of life. However, it happens that some subjects manage to reach adolescence, thanks to medical interventions and ventilation.

Source: orpha. net