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

Researchers are increasingly relying on the big data analysis to study the genetic roots of autism. The purpose is to understand the exact functioning of the disease, as well as to prepare DNA tests that facilitate the diagnosis.

In April 2007, Dr. Micheal Wigler had shown that autistic people are often united by some genetic abnormalities. The mutations are variations in the number of copies (CNV), that is, the presence or absence of repeated DNA portions. The discovery has allowed to explore aspects such as the inheritance of some forms of autism. One day it could also lead to prenatal diagnosis.

Discovery of the role of CNV in autism has prompted researchers to search for all the genes related to the disorder. They focused on those that encode proteins, in samples taken by subjects with family autism cases. The premise was to compare the genes of those exposed to genetic mutations. Thanks to data from more than 600 families, scientists have detected hundreds of genes involved in developing autism. Among them, however, there are 6 genes with a higher role than others.

In 2014, the team carried out two new studies, based on DNA testing of more than 20,000 people. The researchers thus linked 50 genes to autism. Thanks to family analyzes, they also sought genetic variants both hereditary and new. In this way they narrowed the circle to 10 genes. Subsequent studies have added 65 new key genes to the list, plus 6 CNVs.

All of these studies have shown a link between genes and autism. Autism is therefore becoming more and more configured as genetic disease, rather than psychiatric illness. This means that you could combine the data collected with the new genome sequencing tools and statistics. The result could be a greater ease of diagnosis and, why not, preventing the disease.

Source: scientificamerican.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

Rheumatoid arthritis is a chronic disease affecting the joints. The membrane that envelops them flashes and in this way causes progressive erosion of the cartilage. It is a very painful and very debilitating disease that limits the freedom of movement of those who suffer.

Rheumatoid arthritis affects mainly women between the ages of 35 and 50. It is an autoimmune disease, in which the person's immune system attacks the body itself. Specifically, white blood cells flatten against joint tissues and cause inflammation.

Chronic inflammation affects mainly synovium, the tissue that secures the lubricant for cartilage and bones. This thickens and with time it eats cartilage and entire bone parts. Muscles and ligaments that support the articulation weaken and labor to perform their functions.

Inflammation occurs with redness, swelling and pain. Those suffering from rheumatoid arthritis make it even harder to move and the situation is only destined to get worse. Timely intervention, however, can undermine bone damage and improve patient conditions.

The causes of the disease are still unclear. It is known that there are genetic factors: many patients have anomalies related to the functioning of the immune system. According to scholars, however, they would have a partial role in the manifestation of the disease. Genetic predisposition would be important but not decisive.

Given the uncertainty surrounding the disease, today most of the symptoms of rheumatoid arthritis are addressed. The treatments are aimed at: alleviating pain; Reduce inflammation; Curb the damage. For this purpose it acts both pharmacologically and by acting on the lifestyle.

When the disease is in acute phase, rest allows the joints to recover from inflammation. On the other hand, in the quiet moments a bit of exercise helps to strengthen the muscles and to safeguard joint mobility.