Aurora magazine

A research led by Professor Philip Ingham showed the genetic basis of myopathy, a muscle disease. To carry out the study, scientists used zebrafish as a model for the disease. In this way, they made an important step forward in the struggle of a still unknown disease.

Myopathies are diseases that affect muscle fibers and cause weakness. To date there is no treatment, as myopathies can develop in several ways. A particular type is non-metallic myopathy. It mainly affects skeletal muscles and makes it difficult to nourish itself. Subjects who suffer from it have mutations in the MYO18B gene, but not the role of these so far unknown.

The researchers used high-resolution genetic analysis to create a MYO18B model in zebrafish. These tropical fish have in fact 70% of the genes in common with the human being. This makes them simplified models of the human genome.

The analysis showed that MYO18B is active especially in skeletal muscles with fast contraction fibers. It also has an essential role in the bond between actin and myosin filaments, which allow muscle fibers to contract. Abnormalities in the gene interfere with all these functions and are crucial to the development of myopathy.

The discovery will help to better understand the genesis of the disease, so that new treatments and genetic testing can be developed.

Source: medicalxpress.com

A Cambridge University team has identified what makes women more empathic than men. The Genome Wide Association study is based on the analysis of 90,000 DNA samples. Starting from this, researchers found variations in chromosome 3 associated with greater cognitive empathy. Variations are only present in female subjects.

Professor Simon Baron-Cohen's team had already prepared a test called Reading the mind in the eyes. The purpose of the test was to measure social intelligence and cognitive empathy from the eyes. Subsequently, the group deepened the subject, looking for a link between genetic variations and empathy. Genome Wide Association was born.

Scientists have sought polymorphisms within the genome that can be traced back to the ability to read the emotions of others. The DNA test revealed the role of the LRRN1 gene present on chromosome 3. The gene is mainly expressed in the striated body, an area of ​​the brain associated with cognitive empathy.

Reading the mind in the eyes had shown greater empathy in women. The new study shows that LRRN1 is very important in women, which suggests that the two things are connected. In men, however, correlation would be absent.
The researchers linked the results of genetic analysis with the presence of possible disorders such as anorexia and autism. It has emerged that some changes in DNA are associated with greater social empathy, but also with the risk of anorexia.

Source: lastampa.it

The Lyon Congress of the European Paediatric Neurology Society brings good news. Nusinersen, the new drug against spinal muscular atrophy (SMA), is good. Early trials had already proven the safety of the drug while these showed their efficacy against the disease.

The researchers submitted two studies, conducted using the same molecule on two groups of patients. The ENDEAR study involved SMA children of type 1; CHERISH study involved children over 2 years of age. The first study showed an increase in survival rate and functional improvement. So not only did the drug stop the disease, but it has regressed it. Improvements also present among the participants in the second study.

he drug acts on the SMN2 gene and stimulates it to produce homonym. In this way it protects the motoneuron, otherwise destined to die due to the SMN protein deficiency. It is administered by injections between the vertebrae, so as to inject the active principle around the marrow. A somewhat annoying procedure, however, which little patients have become accustomed to.

At present doctors did not report adverse drug reactions. The few discomforts come from the method of administration, but are mild in comparison to the benefits gained. Injections also decrease with time. It starts from 3 in the first month, followed by 1 shortly after and continues with 2/3 per year.
For the moment nusinersen is available in Italy only for compassionate use, so for children at risk of survival. However, many patients are expecting to market in our country.

Source: panorama.it

According to two US studies 1 adult in 5 has genetic mutations linked to a disease. These mutations often do not cause the onset of the disease itself but increase the risk that it will appear. This means that identifying them in time may facilitate the prevention of certain pathologies and perhaps avoid them. That is why scholars promote a widespread use of full DNA sequencing.

The first study was published on The Annals of Internal Medicine. It involved 100 healthy adults who told the family medical history. The researchers then chose 50 of them randomly and subjected them to complete genetic screening. They analyzed about 5 million DNA sequences, placed in 4,600 genes. The screening recommended by the American College of Medical Genetics and Genomics (Acmg) involves the analysis of only 59 disease-related genes.

DNA screening revealed that over 50 people had at least one mutation due to a pathology. It also emerged that all patients in question exhibited at least one recessive mutation linked to a disease. If they had a partner with the same recessive mutation, then their children could manifest the disease. An event to be studied with further tests, which would hardly have emerged with the only history. Of the 50 participants interviewed and enough, only 16% were directed towards more in-depth genetic analysis. This is against 34% of the second group.

The second study has achieved very similar results to that of the first. The Stanford Center for Genomics and Personalized Medicine team analyzed the DNA of 70 healthy adults. Of these, 12 (about 17%) showed genetic mutations linked to a higher risk of pathologies. Again in this case, the researchers went beyond the analysis of the 59 recommended genes. Consequently, standard analyzes may be insufficient to fully effective prevention.

Source: sciencemag.org