Aurora magazine

The Dot Foundation has an ambitious goal: eradicating rejection thanks to genetic research on transplants. The foundation was born a few months ago, thanks to an initiative of the Piedmont Region. At his head is Professor Mauro Salizzoni, an expert in transplantation.

The rejection is a problem that affects about a fifth of those who have received a new organ. It is estimated that 20% of those awaiting a transplant are on their second attempt. In these cases, the first organ was attacked by the patient's immune system and irreparably damaged. The work of the Dot Foundation aims to solve this problem by identifying possible early markers of rejection. This way you avoid losing the transplanted organ.

Salizzoni has launched an announcement: it could take € 200,000 and a year of work to start the project. A project that goes back to the origins of the history of transplants, which began with genetics. A project that could also bring benefits to other areas of medicine. Recall that the new drug against hepatitis C comes from transplant medicine.

To start the research, thousands of biological samples of donors and recipients will need to be collected and stored. Researchers will analyze the DNA, in order to identify any common genetic variants. These could become early markers linked to the risk of rejection, allowing to better match the organ and the recipient. This would extend the life of the transplanted organs and improve that of those who receive them.

Source: ansa.it

The fragile or Martin-Bell X syndrome is a genetic disorder that causes mental retardation and mild dimorphism. The cause is a mutation of the FMR1 gene on the X chromosome, affecting 1 child in 1250 and 1 child in 2500.

At the base of the disease there is a dynamic mutation that causes a deficiency of the FMRP protein. Under normal conditions, the affected DNA tract has between 6 and 50 copies of CGG triplets. In healthy carriers, copies are 50-200. In the diseased subjects, instead, this stretch of DNA expands progressively and leads to the aforementioned deficit.

In healthy subjects, the FMRP protein binds with RNA. It is found mainly in the testicles and the brain, which is why these are the organs most affected by his absence. The deficiency manifests itself gradually, in a period between the first months of life and puberty. Symptoms are varied and often not easy to identify. In some cases they are also linked to other diseases, delaying the diagnosis.

The most obvious physical symptoms are elongated face, low-planted auricles, protruding jaw. In some cases, strabismus and dental occlusions are also present. Some patients with fragile X syndrome also suffer from macrocephaly and mitral valve prolapse. In the post-pubertal phase, an increase in the volume of the testes can also occur.

Fragile X syndrome is the most common cause of inherited mental retardation. The extent of the delay, however, is variable and accompanied by other symptoms. Those suffering from Martin-Bell often show hyperactivity, attention deficit, autistic behaviors and emotional instability.
Given the wide variety of symptoms, the diagnosis can be difficult. We often get there by exclusion, or by examining similar cases in the family. In the latter case, it is also possible to resort to prenatal diagnosis.

Source: osservatoriomalattierare.it

Magnetic resonance imaging (MRI) has unveiled new details on fragile X syndrome. The white matter of the children who suffer from it is less developed than the average. The next step will be to study white matter from different angles, to focus on the brain circuits involved in communication between neurons.

The study by UNC School of Medicine researchers showed that brain differences predate the diagnosis of the disease. Usually the fragile X syndrome is detected around 3 years, if not later. However, brain damage is much earlier. With the right analysis, therefore, it would be possible to diagnose the disease much earlier. It would also avoid the many wrong diagnoses related to the disease.

Unfortunately, in this case early diagnosis is not synonymous with early treatment. For the time being there are no treatments for fragile X syndrome. However, the discovery could facilitate research. In fact, the differences detected in the white matter could become the basis for new studies.

The study involved 27 children with fragile X syndrome and 73 healthy children. Researchers collected images made with magnetic resonance imaging. In particular, they focused on 19 bundles of myelinated axons, ie the longest arms of neurons. These connect the various parts of the brain to each other, allowing rapid communication between neurons. A good connection between neurons is essential for the proper functioning of the brain, especially in the age of development.

Children with the syndrome showed abnormalities in the development of beams 12 and 19 from 6 months of age. These newborns had much less developed fibers in various parts of the brain, although the symptoms were not yet evident.

Magnetic resonance images confirmed previous observations made on mice. In particular, it emerged as the expression of the X fragile impacts on development from the beginning. A promising revelation, which could facilitate the discovery of new early treatments.

Source: med.unc.edu

Researchers at the University of Queensland have discovered how to diagnose type 1 diabetes in infants. The discovery could lead to the development of an ad hoc genetic test for early diagnosis. In this way it will be easier to identify the children most at risk, even in the absence of cases in the family.

Many children diagnosed with type 1 diabetes have never had cases in the family. This makes it more difficult to carry out a specific prevention path for them. The risk of complications related to late diagnosis also increases, some of which are very serious. The genetic test in development, however, would allow you to immediately find who runs the greatest risk of getting sick.

The researchers analyzed data collected in 10 years from two cohorts of children with type 1 diabetes. Thanks to the analyzes, they identified a detectable gene expression within the first year of life. Combined with a genetic risk score, it allows to evaluate the chances of getting sick. This expression is useful for identifying those who, despite having a low score, develop diabetes anyway.

Keeping diabetic children monitored immediately reduces the risk of diabetic ketoacidosis, a medical emergency. In children under control the incidence is 5%, compared to 40% of unmonitored children.

Source: uq.edu.au