Aurora magazine

A Columbia University team has identified a genetic abnormality that causes some cancers, including glioblastoma. At the base of the disease is the fusion of the FGFR3 and TACC3 genes. The phenomenon leads to the increase of mitochondria, which causes the uncontrolled multiplication of cancer cells. According to the researchers, interfering with the abnormal activity of the mitochondria could stop the progress of the tumors.

The discovery is based on a study published in the journal Science in 2012. The same team had shown that 3% of patients with glioblastoma show the fusion of FGFR3-TACC3. In the new study, the researchers showed the beneficial effect of the mitochondria-inducing drugs that stop energy production. However, the repercussions of the discovery go beyond the treatment of glioblastoma.

The same genetic fusion is present with similar percentages even in those affected by cancer of the pom poms, the esophagus, the breast and many others. It is probable that the genetic mutation of FGFR3-TACC3 is the most widespread in cancer among those identified to date. This means that the discovery could help combat not only glioblastoma, but also other cancers. In animal models with fusion of FGFR3-TACC3 genes, inhibition of mitochondrial metabolism halted tumor growth. Guinea pigs treated with drugs to inhibit mitochondria and to inhibit FGFR3-TACC3 showed higher levels of glioblastoma survival.

According to various studies, blocking the enzymatic activity of gene fusion is enough to stop the tumor. Over time, however, the tumor becomes drug resistant and tends to return. Adding drugs that inhibit mitochondrial metabolism could help solve the problem.

Source: lastampa.it

Marfan syndrome is a rare genetic disease that affects connective tissue. Only in Italy there are about 12,000-20,000 cases, of which 75% are hereditary. The cause of the disease is an alteration in the gene that codes for fibrillin-1, FBN1.

The disease affects in particular the heart and blood vessels, but also affects the ligaments and the skeletal system. Beyond some striking cases, Marfan's syndrome is difficult to diagnose without a genetic test. The most obvious clinical signs are:

• high height
• elongated limbs
• tapered fingers
• ectopia of the crystalline lens
• predisposition to dislocations
• alterations of the vertebral column
• lasso connective tissue

The laxity of the connective tissue has repercussions on various organs, such as heart and pomoni. In the case of the cardiovascular system, it mainly affects mitral valve and ascending aorta. For this reason, those suffering from Marfan syndrome are predisposed to aneurysm and aortic dissection.

In some cases, it is easy to confuse the symptoms with simple physical characteristics. Genetic screening is a great help in this regard and allows an accurate and fast diagnosis. Being a mainly hereditary disease in Marfan, the test is recommended for those who have family cases.

If Marfan syndrome is diagnosed, it is important that the patient is followed by a cardiologist. This will perform all the examinations necessary to identify any aortic dilatations and intervene before the break. If the dilatation is still in its infancy, it is possible to proceed with drug therapy. Otherwise surgery is necessary.

Source: osservatoriomalattierare.it

A team from the National Institutes of Health and University in Manchester has unveiled new details about the Chediak-Higashi syndrome (CHS). It is a rare genetic disease, of which about 500 cases are known all over the world and with devastating effects.

Chediak-Higashi sufferers show a large number of different symptoms. The subjects have a marked predisposition to bleeding and neurological problems. Furthermore, immune system malfunctions make them vulnerable to even the most common infections. In most cases, these people die from one of these infections.

The killer cells are immune cells with the task of eliminating aberrant cells, such as cancer cells, infected, malformed cells. They act by means of toxic enzymes that secrete into the cells to be eliminated. In subjects with CHS, killer cells fail to secrete these enzymes appropriately.

The team found that the immune cells of Chediak-Higashi sufferers have an abnormal cytoskeleton. Enzymes are too large to overcome the cell barrier, making killer cells useless. To solve the problem, the researchers used drugs that reduce the density of the cytoskeleton.

According to the first tests, reducing the density of the cell barrier restores the function of killer cells. This could have important repercussions on the patient's health and increase his chances of survival.

Source: manchester.ac.uk

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