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Ultime notizie dal mondo della genetica


Genetic tests will be personal trainers of the future

A new study analyzes the potential of genetic tests in the field of sports training. According to the researchers, the tests will help create personalized cards and prevent the risk of injury. For the moment it is still science fiction, but with the advancement of technology the future is approaching.

Regular physical activity improves health and reduces the risk of chronic diseases. On the other hand, the type of exercise should change from person to person. Beyond nutrition and socio-economic factors, in fact, even genetics plays a fundamental role in the outcome of training. The presence of unknown heart conditions even increases the risk of heart attack during intense physical activities. Some genetic variants, on the other hand, increase the risk of tendon injury.

The study "Genetic testing for exercise prescription and injury prevention" analyzes the progress made in the application of genetic tests to the sports field. The authors evaluated data from previous studies to identify genes related to different types of lesions. According to the study, this data could be used to develop new genetic tests for the development of personalized workouts.

Genetic tests for the sports field could help those suffering from Marfan syndrome. It is a genetic disease caused by a mutation in the gene that codes for fibrillin-1. Those suffering from this condition have very long limbs and a slim structure, common characteristics among basketball and volleyball players. Genetic testing could help identify those suffering from it, reducing the risk of aneurysm and aortic dissection.

Source: medicalnewsbulletin.com

Hodgkin's lymphoma: causes and symptoms

Hodgkin's lymphoma is a rare cancer affecting the lymphatic system. It affects mainly young people between 20 and 30 years and the elderly over 70 years. It has an incidence of 5% of the total cases of cancer diagnosed and affects mainly men.

Those most at risk are those with a family history of illness, but environmental factors also play a role. Those infected with infectious mononucleosis, for example, are more at risk than the average. The same applies to those who suffer from autoimmune diseases and those who are following therapies with anti-rejection drugs.

There are two macro categories of cancer: Hodgkin's lymphoma predominantly nodular lymphocytic, 5% of cases; classic Hodgkin's lymphoma, 95% of cases. The classic variant presents sub-types in turn:

Nodular sclerosis: mainly affects young adults and includes 60% of cases;
Lymphocytic predominance: it includes only 5-10% of cases;
Mixed cellularity: affects older people and includes 15-30% of cases;
A lymphocyte depletion: it is the least common with only 1% of cases and typical of the elderly.

Because it affects the lymphatic system, Hodgkin's lymphoma may appear in several organs, although it often originates in the upper body. In fact, the swollen lymph nodes in the cervical region are the most frequent. The enlargement itself can be linked to a large number of causes, so by itself it is not very indicative. Buy more weight if accompanied by constant fever, night sweats, weight loss, widespread itching.

In the presence of symptoms, the physician's task is to analyze the clinical history of the subject and the family. The analysis of the symptoms follows and, if necessary, further in-depth examinations. Among these there is also the biopsy of the lymph nodes, to identify any cancer cells. In the event that the outcome is positive, we will continue with radiographs and resonances to verify the extent of the tumor.

Treatment of Hodgkin's lymphoma depends largely on the type of disease and the age of the patient. It is largely controlled by chemotherapy and radiotherapy. In case of relapse, stem cell transplantation may be necessary.

Source: airc.it

New guidelines for genetic testing for prostate cancer

There are few guidelines on the type of approach to be followed in the case of genetic testing for prostate cancer risk. A team of experts has decided to remedy the problems. Researchers at the Sidney Kimmel Cancer Center (SKCC) at Thomas Jefferson University made a series of recommendations.

More and more studies prove the existence of genetic hereditary factors underlying prostate cancer. Genetic tests can provide men and their families with the information they need to prevent this risk. Furthermore, if the disease occurs, they are a guide to identify the best treatments.

It is estimated that about 10-15% of prostate cancer cases have a hereditary basis. Some of the genetic anomalies that cause the tumor have been identified and can be identified by genetic testing. This is why, in case of suspected familiarity, it is important to request ad hoc genetic counseling. Urologists, family doctors and oncologists, however, are the first to give all the necessary information about it. This necessitates guidelines, so as to provide all the guidance patients need.

The guidelines aim to provide increasingly precise consultations, so as to deal with difficult situations. The results of genetic tests for prostate cancer risk, in fact, can affect entire families. A possible hereditary knowledge of prostate cancer affects not only those who take the test, but also their children, siblings and parents.

The SKCC initiative has involved over 70 experts including urologists, geneticists and oncologists. These included gynecologists and breast cancer experts, as well as bioethics scientists. Together they have drawn up the following recommendations:

  • Urologists are often the first to diagnose prostate cancer. It would be their task to dig into the patient's history, identifying any tumors in the maternal and paternal family. Not only the cases of prostate cancer, but also those in the breast, ovaries and others could be linked to a genetic predisposition. This could help other family members to develop prevention strategies.
  • It is important to disseminate more information on genetic testing. In particular, individuals at risk of genetic predisposition should be informed.
  • The genetic tests on the market today test the variants of 10-14 genes specific for prostate cancer risk. From a clinical point of view, it is better to dwell on certain subsets of genes. For example, BRCA test results are clinically relevant: many men with prostate cancer show abnormalities in these genes. In the presence of these mutations, the tumor behaves differently.

Source: jefferson.edu

New drug to stop kidney degeneration

Whatever their cause, progressive kidney diseases always lead to the progressive destruction of their functions. Sometimes they are caused by obesity or hypertension, others are a symptom of a genetic disease. Researchers at the Broad Institute of MIT and Harvard have discovered a new drug to stop this degeneration. The discovery could prevent dialysis for millions of people.

For the moment there are few therapeutic options for those suffering from degenerative diseases of the kidneys. Patients who undergo transplantation often suffer from complications. Many of them have to live with dialysis for years, if not for the rest of their lives. All this has consequences both on the work and on the private life of these people.

Researchers addressed the problem from the biological side of the genetic disease. They identified the genes and proteins involved in kidney degeneration. In particular, they focused on what causes the death of the podocytes, the "filter" cells of the kidneys. When they do not work, proteins begin to pass from blood to urine.

Previous work had identified a protein called Rac1 as the cause of some kidney diseases. The new study reveals that Rac1 activates a protein called TRPC5, which causes the inflow of calcium into podocytes and destroys them. The researchers then developed a drug that blocks the process, based on a molecule called AC1903.

In guinea pigs with progressive kidney disease, AC1903 protected the filter cells and blocked the degeneration. The molecule has also given good results on subjects in advanced stages of the disease, restoring part of the functions. According to the study, the drug would work on both the damage caused by genetic diseases and those from hypertension.

Source: broadinstitute.org

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