Aurora magazine

A team of researchers at the Hebrew University of Jerusalem has developed a new diagnostic test. This is a blood test that can identify biomarkers related to various diseases. In this way it allows to assess the extent of the damage and to process the best treatment for each case.

The basic genetic heritage is always the same. Nevertheless, the processes that take place in the cells of individual tissues can modify it. The phenomenon is called methylation and determines the specificity of different tissues. Furthermore, the cells of a diseased tissue have a DNA that is partly different from those of a healthy tissue.

The test is based on a principle known for decades and also used in fetal DNA tests. Dead cells release DNA fragments into the blood. In theory, it should be possible to derive this DNA from a blood sample and determine its origin thanks to the methylation pattern. In practice, isolating and decrypting these cell fragments requires advanced technologies and knowledge.

Israeli researchers have developed a technique for isolating DNA fragments in the blood. By examining these fragments, they were able to determine the health conditions of patients suffering from various diseases. For example, they worked out a way to diagnose diabetes mellitus more precisely. In fact, the blood of those suffering is richer in fragments of pancreas cells than the average.

DNA fragment testing could be decisive for early diagnosis of cancers and degenerative diseases. By detecting too many cells of a certain type, doctors would be able to diagnose the disease before the onset of symptoms.

Source: huffingtonpost.it

A Chinese study could explain why obese men have infertility problems. Researchers have shown that obese people have higher levels of inflammatory markers in the seminal fluid. It also has less sperm and less quality. The cause of all this could be chronic inflammation of the reproductive system.

Obesity causes a large number of disorders, including a marked reduction in fertility. The phenomenon could be linked to another typical disorder: inflammation. Fat cells produce pro-inflammatory proteins. It follows that those who are obese often suffer from chronic inflammations that touch various tissues.

The Chinese researchers compared the levels of inflammatory markers in the genitals of normal and obese guinea pigs. They found that obese guinea pigs showed structural changes in the testes and hormone production. Obese mice had lower levels of testosterone and higher levels of pro-inflammatory proteins. All these elements affected the quality of the sperm and the ability to reproduce the guinea pigs.

The second phase of the study analyzed samples of 272 human volunteers, 82 normal weight, 150 overweight and 40 obese. Obese volunteers showed high levels of pro-inflammatory proteins. Their samples also had less sperm and less motile. This means that in those conditions the only hope for reproducing lay in assisted procreation. Unless you change your lifestyle.

The study went beyond trying a link between obesity and infertility. He also hypothesized that weight loss could be a good strategy to recover at least part of the fertility. In some cases, this could prevent permanent damage and avoid recourse to PMA.

Source: frontiersin.org

For the first time in Italy, doctors at the San Raffaele Hospital in Milan implanted an artificial retina on a blind patient. The operation lasted 11 hours and was conducted by a team of specialists in ophthalmological surgery. The patient is fine, but the outcome of the intervention is still unknown.

The subretinal prosthesis contains a microchip of about 3 millimeters and contains 1600 sensors. The doctors have placed it at the macula, from where it should stimulate the nerves that connect the eye and the brain. In this way it should replace the cells now unable to do this work due to diseases such as retinitis pigmentosa. Together with the microchip, the doctors also implanted a connection circuit behind the ear.

The patient has retinitis pigmentosa from a young age and has lost sight gradually over the years. If all goes well, when the microchip is turned on it will again be able to perceive lights and shapes. While not fully restoring sight, the mechanism should still greatly improve the quality of a woman's life. It will also be a gradual process.
The artificial retina is an absolute novelty in Italy. However, there are very few cases in Europe: only two European centers have carried out this intervention to date.

Source: corriere.it

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