Aurora magazine

Researchers at NYU have created a genetic test to prevent cervical cancer aggressiveness. To do this, they classified the molecular biology of uterine carcinosarcoma. Thanks to these genomic information, doctors can determine the genetic fingerprint of each patient's tumor. It will therefore be easier to find the treatments that are best suited to you.

Although all uterine carcinosarcomi share certain genetic traits, each case is different. The own genetic abnormalities of these tumors in fact hold a large number of roles in the biology of cancer. For their part, anticancer drugs tend to work against a specific target gene. This means that are effective in some cases but not in others, precisely because of the variety of possible mutations.

The researchers identified the molecular roots of uterine carcinosarcoma with genetic analysis, epigenetics, transcriptomics and proteomics of 57 women tissues. From the samples they received about 60,000 individual characteristics, traceable to 9,149 genetic mutations. From this information, they identified 5 genes common to almost all cancers. In this way they created a genetic atlas of the disease, in which appear all its genetic variants.

The variety of combinations found explains why it is so difficult to treat this disease. It is estimated that only 1 in 3 women will survive more than five years after diagnosis. Of the women involved in the study, 64% had recurrence during the follow-up period of 25 months. 58% of them died during the study. These numbers make it clear why it is so important to identify treatments designed for each individual case.

The team compared the data with those of other types of cancer. The comparison showed that the uterine carcinosarcoma may be linked at the molecular level to completely different tumors. More piece of information, which could facilitate the search for new therapies.

Source: sciencedaily.com

Arrhythmogenic right ventricular cardiomyopathy is a disease that affects mainly the right ventricle. It causes the replacement of heart muscle tissue with adipose tissue, with consequent structural abnormalities. It manifested by arrhythmias and worsening dysfunction, ranging from palpitations to syncope. If not treated in time, it causes arrhythmias which can lead to death within minutes.

In 30-50% of cases have a family distribution and is transmitted either by dominant genes recessive. For this reason, the family history items are a fundamental diagnostic criterion. In addition to history, the diagnosis includes ECG graphs, ECG and MRI. To assess the functioning of the ventricle, you may also use an electrophysiological study. This allows you to determine the type of arrhythmia and when it can be tolerated by the body.

Current treatments are used primarily to prevent arrhythmias. The first step is to eliminate the significant physical activity, which could be fatal. That's why in the past the arrhythmogenic right ventricle has claimed many victims among sportsmen. You also need to proceed with a pharmacological therapy with beta-blockers, amiodarone, sotalol. In case of arrhythmias can not be controlled in a traditional manner, it can be useful to proceed with surgical interventions aimed at blocking arrhythmias in the bud. For patients who have already suffered a heart attack, you may also need the implantation of a defibrillator.

A team of Italian researchers, South Africans and Canadians has identified one of the genes responsible for arrhythmogenic right ventricular. It is the disease due to the sudden death of many sports, including Renato Curi, Vigor Bovolenta, Piermario Morosini. The gene is the CDH2 and you go to join together with the other seven have already been identified by researchers at the University of Padua.

Arrhythmogenic right ventricular cardiomyopathy is a genetic disease that affects the heart tissue. Adipose and fibrous tissue replaces the heart, favoring tachycardia and ventricular fibrillation. In some cases, it causes loss of consciousness and cardiac arrest. In the absence of an immediate electrical defibrillation, death occurs within minutes. In Italy alone, about 50,000 people die every year, many of them very young. The hereditary cardiomyopathy is indeed a major cause of death in young people under 35 years.

The researchers followed for 20 years a South African family affected by arrhythmogenic right ventricle. Excluding genetic causes known so far, the team has sequenced the genomes of two sick individuals. The researchers started with over 13,000 common genetic variations between the two, scremandole CDH2 up to identify the gene. They then validated the discovery finding this same abnormality in another patient, she belongs to a different family.

The CDH2 gene is responsible for the production of the protein N-Cadherin, which allows the adhesion between the cardiac cells. The anomaly alters the production of the protein, causing a weakening of cardiac tissue and arrhythmias. The researchers had already observed that mice with the mutation tended to suffer from malignant ventricular arrhythmias, often dying suddenly. However, the discovery confirms the role of CDH2 in human disease and facilitates the diagnosis.

The study's findings could save the lives of many people, suffering from cardiomyopathy unknowingly. Genetic tests, if not a day non-invasive prenatal tests, could identify the mutation before it becomes dangerous. Individuals may then begin the preventive strategies needed, avoiding an otherwise almost certain death.

Source: corriere.it

Now you can give new life to the spermatozoa, restoring the switch in male fertility. Researchers of the University of Qatar and Cardiff have reactivated the function of PLC-zeta protein found in sperm. Mutations in this protein can undermine the functioning of the male gametes and cause infertility. Injecting an additional dose fertilized ovum, however, it would be possible to work around this problem. The discovery could open new avenues in terms of diagnosis and treatment of some forms of male infertility.

other tests will be needed, but the study could soon find application in the clinical setting. It would be a valuable support to the current in vitro fertilization techniques. It would help in restoring the egg activation, at least in cases where the failure is due to the shortage of PLC-zeta. One way to give new hope to many couples who can not have children.

How exactly does the new technique? When the sperm penetrates the ovum, it injects an enzyme that causes the fluctuations in the amount of calcium. At this stage there is a woodpecker every two minutes and in two hours the process starts the egg development. The study shows that the PLC-zeta mutation blocks the oscillations of calcium levels. For this reason the activation remains outstanding and fertilization fails.
The next step is to see if the egg contains receptors that bind to PLC-zeta. If so, they may also be involved in fertilization failure. So they would be able to explain some cases of female infertility incomprehensible today.

Source: ansa.it