Aurora magazine

Jo Cameron is 71 years old and does not know what pain is. Due to a rare genetic mutation, the woman does not feel pain and is unable to feel stress. This led her to collect broken limbs and burns of various kinds, caused by the inability to stop in time. Nevertheless, he began to investigate this strangeness only after the age of 65, following a surgical operation. Now his mutation could lead to the creation of new painkillers for those suffering from chronic pain.

The first to realize that something was wrong was Devjit Srivastava. The doctor noted that the woman had several signs related to arthrosis, now in a very advanced stage. Nevertheless he did not show the slightest pain and walked despite the deteriorated hip joint. The doctor reported the case to the geneticists of UCL in London, who studied the woman's high pain threshold.

Geneticists have discovered two important mutations in Jo Cameron's DNA, which suppress pain and anxiety. At the same time, they increase happiness and accelerate wound healing. The first mutation is quite common and concerns the FAAH gene. The second one is much more particular: the woman lacks the gene that controls FAAH. As a result, it produces high levels of anandamide, the substance that reduces pain and increases forgetfulness.

It is likely that the woman inherited the mutation from her father. Now researchers are looking for a way to mimic its effects, so as to treat those suffering from chronic pain.

Source: repubblica.it

Many of the most difficult diseases to treat have a genetic basis: genetic diseases, of course, but also tumors and viral infections. Scientists have long been working on drugs that repair faulty genes, yet few of them are available on the market. Why? Researchers at Northeastern University have come up with an answer.

Professor Ke Zhang's team has developed a way to increase the efficacy of a class of these drugs, oligonucleotides. It is in fact frequent that the liver and kidneys eliminate the drugs of this class, rendering them ineffective. Researchers are therefore elaborating a defensive structure for the molecule, which isolates it and allows it to act on the organism. How does this affect the future of genetic medicine?

The shield consists of multiple chains of polyethylene glycol attached to the oligonucleotides. Chains make the drug too large to be filtered, protect it from enzymes and allow it to interact with genes. In this way the drug stays in circulation longer and has more time to destroy damaged genes. This could give new hope to many treatments, wrecked because the drug could not remain in circulation.

The team tested the shield on an anticancer medicine. Most of the oligonucleotides have attacked the genetic material of cancer cells. As a result, the rate of tumor growth has decreased and there has been an improvement in the health of the guinea pigs.

Source: medicalxpress.com

A team of French and Swiss researchers has developed a chip to facilitate the diagnosis of Huntington's disease. The micro device measures the length of regions of DNA connected to the disease in less than 5 minutes.

Scientists have also tested it on samples of patients with type 1 myotonic dystrophy, with excellent results. Genetic diseases such as Huntington are caused by the presence of trinucleotide repetitions in a gene. In the case of Huntington's disease, there are too many CAG trinucleotide repeats. The particular nature of the genetic defect extends the timing of the diagnosis by traditional sequencing.

Researchers from the Universities of Toulouse and Lausanne tested a chip called μLAS, which measures the trinucleotides associated with Huntington. The chip acts like a funnel, dividing the DNA into smaller fragments. At this point a fluorescent dye is used and a marker that divides the fragments by weight. All this facilitates the measurement of the different sections of DNA, determining if there are abnormal areas.

The new system has proven effective in diagnosing 5 cases of Huntington's and 3 of dystrophy. The diagnoses took all 5 minutes or less, while covering the whole range of possible expansions in both diseases. Furthermore, the test proved to be very sensitive, so that the researchers did not have to expand the samples.

Source: huntingtonsdiseasenews.com

Researchers from the University of Pittsburgh have found a way to preserve testicular tissue. In fact, the first monkey was born, conceived thanks to this method and is perfectly healthy. This means that the new method could save the fertility of so many children and boys with cancer.

The first experiment was small, limited to primates. Yet this success raises the hope that the technique can also be applied to humans. If all goes well, it could become routine for those who have to undergo chemotherapy or radiation therapy, thus risking infertility.

The basic concept is similar to the one behind ovarian tissue conservation: "can we get mature gametes from immature tissue?" Now it seems that the answer is "yes". This is especially important for children undergoing treatments. Adults and adolescents can freeze their sperm, but this is not true for those who have not yet reached puberty. The team took tissue samples from the testes of five young macaques.

They have frozen them for a variable period, from five hours to five months. At this point they re-implanted the samples and let them ripen. Once removed again, all the samples were ready to produce spermatozoa. With the sperm obtained, the researchers fertilized 138 oocytes, of which 40% reached the first stages of development. One of these led to the birth of the Grady monkey.

Source: sciencealert.com