Aurora magazine

Antonio Candidi was a boy from Lariano, who died in 2017 due to non-Hodgkin's lymphoma. Antonio's family and friends decided to celebrate the memory in the best way: helping to save other lives. They have in fact activated a sports tournament with a fundraiser, for the Italian Lymphoma Foundation (FIL). Thanks to their generosity and that of the participants, FIL will launch a new research project on the disease.

The project of the Italian Lymphoma Foundation will have the title "Comparison between Immunohistochemical and Gene expression of the metabolic pathways of BCL-2, CD38, PD1 and PD1-L through the NanoString platform in patients with Nodal Peripheral T-lymphoma". What is the goal behind such a long title?

Researchers will compare two techniques used to analyze genetic markers. They will focus in particular on mRNA molecules, responsible for encoding information during DNA transcription. Molecules carry information to sites where protein synthesis takes place. Their level of expression could therefore influence the response to drug therapies.

Understanding the link between mRNA expression levels and treatment efficacy is essential. It would allow to identify immediately the most effective drugs for a given patient. In this way it would be easier to maximize the effectiveness of the therapies thanks to customized solutions.

The researchers presented the project to the Lymphoma T Scientific Commission of the Italian Lymphoma Foundation, which has already approved it. Head of the study will be Professor Francesco Zaja, Head of the Hematology of the Integrated Healthcare University of Trieste (ASUITS), and Professor Stefano Pileri, Professor of Pathological Anatomy at the Alma Mater Studiorum and Director of the Unit of Diagnosis Emolinfopathology at the European Institute of Oncology in Milan.

Source: osservatoriomalattierare.it

Women who turn to in vitro fertilization are no longer at risk of uterine cancer. The impact on breast cancer risk is also zero. This is stated in a study based on the analysis of over 250,000 British women, led by Dr. Carrie L. Williams. According to the findings, IVF has an effective impact only on women with other risk factors.

In vitro fertilization involves repeated exposure to high levels of hormones. Over the years, doctors have wondered if this does not increase the risk of cancer. Past studies had already confirmed that the impact is inconsistent, but they were all very small. For this reason, Dr. Williams wanted to assess the risk on a larger population.

The research team studied data from over 255,768 in vitro fertilization women between 1991 and 2010. The average age of the first treatment was 34.5 years for 1.8 cycles per person. Only 20% of the participants resorted to more than 2 stimulation cycles. Scientists compared the rate of tumors within the group with the average one. They did not find any significant difference.

The average follow-up was 8.8 years and the maximum of 19 years. In this time frame, there were 164 cases of cancer against 146.9 of the general population. There was a minimal increase in breast cancer cases (191 vs. average 253.5), but it occurred mainly among those who had undergone 5 or more IVF cycles. A very rare case, therefore.

The study appears to exclude a significant correlation between tumor and IVF. Nevertheless, researchers do not rule out any negative consequences later in the years. Furthermore, it is possible that the causes of infertility are somehow linked to an increased risk of cancer.

Source: medscape.com

A genetic therapy administered in utero to defeat a deadly disease. This is suggested by a study conducted for now only on animal models. If the results were positive, there would probably be a way to minimize the consequences of certain genetic diseases. Although the US Food and Drug Administration has approved the first gene therapy, it will take some time before this treatment becomes effective.

Dr. Simon Waddington's team used prenatal gene therapy against Gaucher disease. The disease is caused by an abnormality in the GBA gene, which prevents lipid disposal. These accumulate in the brain cells and in the rest of the body, preventing its functioning. The disease causes irreparable brain damage and leads to death.

In some forms of the disease, it is possible to introduce the missing enzyme into the body and destroy part of the accumulations. Unfortunately, the enzyme responsible for the process does not cross the barriers of the brain, so it can not act on that area. For this reason, for the moment there is no real therapy against the disease, which often kills before the age of two. Gaucher's study represents hope.

The researchers used a virus to carry healthy GBA copies into the brains of developing fetuses. A normal injection is enough for the virus to move from the circulatory system to the central nervous system. From here it disperses throughout the brain, arriving there where the enzyme alone fails.

The study was conducted on sick guinea pigs of a corresponding Gaucher disease. Untreated guinea pigs live for about 15 days after giving birth. Those treated, however, survived for at least 18 weeks and were able to move normally.

Source: nature.com

Gaucher's disease is a lysosomal genetic disease. The cause lies in the deficiency or complete absence of an enzyme, glucocerebrosidase, usually present in lysosomes of macrophages. The enzyme's task is to transform waste fats into reusable sugars. Its deficiency causes the accumulation of lipids in the lysosomes of macrophages, which then become larger. This causes a gradual deterioration of the organs involved.

There are three types of Gaucher disease:

Gaucher Type I: affects adults and has no neurological involvement. It is the most widespread and less severe form.
Gaucher Type II: neuropathic form, affects children and infants. The prenatal form is always lethal.
Gaucher Type III: neuropathic, juvenile form.

Transmission of the disease occurs if both parents are healthy carriers. For this reason, doctors recommend genetic counseling to those who have already had cases in the family. Genetic tests could also be helpful for diagnosis, often difficult.

Type 1 has variable symptoms, even in the presence of the same genetic mutation. It usually manifests with anemia, thrombocytopenia, bone disease. These are the most worrying manifestations, because the abnormal cells infiltrate the bones until they reach the marrow. This causes the lack of platelets, which in turn causes bleeding and anemia. Spontaneous fractures are also frequent.

Type 2 and Type 3 of Gaucher's disease also have neurological consequences. Lipids also accumulate inside the central nervous system. This causes irreversible damage and makes it much more difficult to develop an effective treatment against the disease. In fact, the oral administration of the missing enzymes is only partially effective.

Source: osservatoriomalattierare.it