Aurora magazine

Charcot-Marie-Tooth disease (CMT) is a genetic disease that affects about one person every 2,500. It affects the nerves and causes weakness and muscular atrophy, which start from the feet and spread upwards. In many cases it also causes skeletal deformations that result in more or less pronounced disability. The first symptoms usually appear before the age of 20, to date many forms have been recorded.

The researchers found about 90 genes linked to the disease, but some say they could be even more. In order for the most common forms of Charcot-Marie-Tooth disease to occur, it is enough for the child to inherit even just one altered copy of the gene. However, there are forms with an autosomal recessive and other modalities related to the transmission of the X chromosome. In the latter case, women suffer from a milder form than men.

For the diagnosis of Charcot-Marie-Tooth disease one always starts from clinical observation, supported by an electromyographic examination. Where necessary, nerve biopsy is also used. Genetic tests make the diagnosis more reliable and help prevent transmission to children.

The great genetic variability of the disease makes the treatment difficult. Several studies are underway to evaluate possible treatments. One of the most promising concerns the administration of ascorbic acid in patients with mutations in the PMP22 gene. However, years of further study will be required. For the moment, therefore, it mainly acts through physiotherapy and orthopedic surgery.

Source: telethon.it

An Oxford University study reveals why some people prefer the left to the right. According to the researchers, it would be due to some genetic regions that influence the architecture of the brain. Furthermore, the left-handed genes could influence the way the brain areas dedicated to language work.

The role of DNA in the choice of the dominant hand is not new: previous studies had attributed 25% of causality to genes. Nevertheless, it was still unclear which genes were involved. For this reason, the team of Dr. Akira Wiberg examined the genes of 400,000 people. Of these, 38,332 were left-handed. Analyzes revealed common genetic variants among left-handed people, located in four different genetic regions. Three of these code for proteins related to brain development, also affecting microtubule development.

The structures in question are among the elements that determine how the body's cells will develop. Later, the researchers analyzed the brain imaging of about 10,000 subjects. This allowed them to examine variations in the brain structure of left-handed people. From what has emerged, in those who use the left the two hemispheres communicate better.

This could facilitate the mental processes related to language, even if to confirm it further tests will be needed. Within the examined sample, differences also emerged with regard to the chances of getting sick. Left-handers have a slightly lower risk of getting Parkinson's and a little more schizophrenia.

Source: repubblica.it

Melanoma is the most dangerous skin cancer and affects mostly people under 50. Until a few years ago, an advanced stage melanoma was a death sentence. Today things are changing, thanks to new drugs and genetic tests. When melanoma reaches stage III or even IV, possible therapies are reduced. In recent years, however, new treatments are being born based on the genetic profile of the tumor.

The identification of any genetic mutations can help identify the causes of cell proliferation. In this way it becomes easier to control and maybe stop the process, slowing down the development of the tumor. The most known gene cause of melanoma is BRAF: half of the melanomas have mutations within it. Once identified, it is therefore possible to develop an approach that is as "tailor-made" as possible for the patient. For example, an innovative treatment involves the use of a BRAF inhibitor combined with a MEK protein inhibitor. Once injected, the two inhibitors identify the mutated BRAF protein and stop it.

The tumor stops and the patient has a longer life expectancy. The aforementioned treatment has so far proved effective on tumors at all stages. In the early stages of melanoma, it appears to reduce the risk of recurrence. It therefore becomes increasingly important to perform specific genetic tests in the very early stages, so as to intervene immediately in the best way.

Source: corriere.it

Researchers at the Nemours Children's Health System have analyzed the usefulness of a simple genetic test in the treatment of eosinophilic esophagitis. The test would identify children who respond to a particular class of drugs, PPIs. In this way it would be possible to treat them right away in the best way for them.

Eosinophilic esophagitis is an inflammation of the esophagus that causes certain food allergic reactions. Currently, the most widely used treatment involves the use of PPIs, proton pump inhibitors. Usually used to treat diseases related to acidity problems. However, it is estimated that only 30% to 60% of patients with eosinophilic esophagitis respond to treatment. How to identify them in advance? According to the authors of the study, a genetic test might suffice.

The researchers examined tissues from 92 patients between 2 and 16 years. Children with some common genetic variants were about 9 times more likely not to respond to treatment. Furthermore, the variants could influence the greater efficacy of certain dosages compared to others.

The variants would influence the production of certain enzymes, which would make the drug more or less difficult to metabolize. Genetic tests would allow both to decide whether or not to give drugs, and in what quantities. Without the tests, however, doctors risk prescribing doses that are too high or too low for real needs. The next step will be to verify the effective effectiveness of the approach on a greater number of patients.

Source: eurekalert.org