Aurora magazine

The European Commission has authorized the sale of patisiran, the new drug against hereditary amyloidosis from transthyretin (hATTR amyloidosis). The technology behind the drug starts with a Nobel Prize-winning scientific discovery.

Hereditary transthyretin amyloidosis is a disabling and often fatal genetic disease. The cause lies in some mutations of the TTR gene, which causes an abnormal production of transthyretin. This leads to the accumulation of amyloid proteins in organs and tissues, damaging them. Most often this translates into the death of the subject. Unfortunately, the treatment options are limited, which makes the patisiran an even more precious resource.

Patisiran is based on the technique called RNAi interference (RNAi). The new approach focuses on damaged protein rather than on symptoms. In this way the progression of the disease is slowed down.

The drug is injected intravenously and targets accumulated transthyretin. In particular, it silences a messenger RNA that blocks its production, so as to reduce that present in the organism. Phase III of the Apollo clinical trial yielded positive results. Subjects who received patisiran showed clear improvements. The drug has improved its ability to move, quality of life and nutritional status. All this convinced the European Commission to approve the drug.

Given the severity of amyloidosis, the European Commission used the accelerated evaluation procedure. This was followed by a few days authorization from the US Food and Drug Administration (FDA). The American body has approved the use of patisiran on adults and soon the authorizations of other countries should come.

Source: news-medical.net

Researchers at the Sahlgrenska Academy have discovered a way to increase the likelihood of successful in vitro fertilization (IVF). Stimulating 20 oocytes, instead of the 10 canons, makes it easier for the cycle to be successful. The results could improve treatment outcomes for hundreds of women.

A previous study had established that 10 was the perfect number of oocytes to be used for IVF. According to the scientists, going beyond this number was useless and increased the risk of side effects. Nevertheless, they had only examined implant data performed a few days after the oocyte collection. The study did not include subsequent implants, performed with frozen embryos.

According to the latter study, there is no link between the use of multiple oocytes and possible fetal complications. However, there is a slight increase in the risk of bleeding during gestation and delivery. On the other hand, collecting more oocytes at once would save more hormone treatments to a large number of women.

The researchers examined data collected between 2002 and 2015 by the Swedish National Quality Registry of Assisted Reproduction (Q-IVF). They compared data related to the number of oocytes collected, implant rate, live birth rate and serious complications for mother and child. This allowed to raise the ideal number of oocytes to be collected.

According to Dr. Asa Magnusson, the optimal number of oocytes to mature would be about 20. Over this number, there would be an increase in complications.

Source: gu.se/english

Amyloidosis is a group of diseases characterized by protein alterations. This brings the proteins in question to aggregate and form deposits, which affect the functions of the organs. There are also genetic and hereditary forms, with different clinical pictures depending on the gene involved.

The most common inherited form is transthyretin accumulation amyloidosis. Among the first symptoms is carpal tunnel syndrome, which is followed by an alteration in the sensitivity of the lower limbs. This causes difficulty in performing movements with hands and moving. In some cases, the disease also manifests itself with intestinal problems, deficit of strength, pains in the extremities.

Amyloidosis from gelsolin has two forms:

• Systemic. Protein deposits affect different organs and tissues, leading to corneal dystrophy and dysfunction of the nervous system.
• Not systemic. It is a form that is still poorly characterized, which only causes renal dysfunction.

Those described above are just the most common forms of amyloidosis. There are many other forms of familial and some sporadic amyloidosis. The former are caused by mutations in the genes that code for plasma proteins. In order for them to occur, it is enough to inherit only one mutated copy of the gene.

Diagnosis of various forms of amyloidosis usually starts with clinical observation. Specific genetic tests follow, so as to identify the mutated gene. Unfortunately, there are no definitive therapies at the moment. One can only act on symptoms in an attempt to improve the quality of life of patients. In some cases, liver transplantation blocks the synthesis of the amyloidogenic precursor.

Source: telethon.it

Behind the ultra rapid growth of certain tumors is the Nuak2 protein. The discovery comes from the team of Dr. Liliana Attisano, University of Toronto. Combined with genetic testing, it could pave the way for new and personalized treatments.

Nuak2 is a protein that interfaces with the Yap and Taz pair of molecules. Thanks to its action, the molecules modify some genes of cancer stem cells. They thus stimulate proliferation and increase the rate of tumor development. Furthermore, they stimulate the action of the gene that encodes the same protein Nuak2, giving way to a vicious circle. The overactive version of Nuak2 raises the protein levels, stimulating more molecules and influencing more cancer stem cells.

If you find a way to stop the mechanism, you could also stop the progress of the tumor. Researchers therefore aim to develop molecules that inhibit Nuak2. Once the production of the protein is blocked, the vicious circle would be interrupted and would wane. For the time being they have achieved good results in vitro and on animal models. It will take some time to get to the therapies on the man, but the road seems the right one.

If all goes well, in about ten years we will have a drug that inhibits the gene. Meanwhile, genetic tests can still give a big hand. The presence of Nuak2 is in fact a clear warning signal. In cases where it is present, it is already clear that the tumor will be likely to be aggressive and to be dealt with quickly.

Source: ansa.it