Aurora magazine

Costello syndrome is a disease that affects around 300 people worldwide. It is caused by mutations in the genes that control the development and division of cells from different organs. In about 80% of patients, the anomaly causes changes in the amino acids p.Gly12Ser. Unfortunately, this causes variable symptoms, which makes diagnosis difficult. The only reliable criterion is genetic analysis.

Children with Costello syndrome are born underweight and struggle to feed themselves, so much that forced feeding is necessary. The chicks grow more slowly than the average and are of short stature, often afflicted by a moderate mental disability. In some cases, the disease also causes macrocephaly, muscle and skeletal malformations, cardiovascular problems. Delays in growth also cause puberty to shift forward, which is contrasted by the symptoms of premature aging in adulthood.

Costello's syndrome is in many ways similar to other diseases, which hinders its correct diagnosis. People with family cases can resort to prenatal diagnosis. In order for the tests to be effective, however, it is necessary to know the genetic mutation that runs in the family.

The treatments available today focus on the symptoms of the disease. Doctors therefore act on any cardiovascular problems, even with surgery. Specific intellectual strategies are used for intellectual problems. Periodic checks are used to counteract the development of tumors - a very present event in this disease.

Source: orpha.net

A team from China Agricultural University has identified the genetic cause of hereditary baldness. Hair loss would be the gene that codes for the Map2 protein, the architect of our hair. When the gene doesn't code as it should, the hair thins out and starts falling out. Thanks to the discovery, in the future we will perhaps be able to stop the whole process.

The researchers used pigs as models, being animals with a biology similar to that of humans. To this end, they selected both specimens with alopecia and specimens without this problem. They compared the follicles in the two groups, thus discovering that the second ones had far greater follicle density. After that, they went on to analyze the genetic differences in the two types of specimens.

Thanks to DNA sequencing, scientists have identified a genetic mutation found only in pigs with alopecia. The animals in question showed an anomaly within the gene that codes for the Map2 protein. The malfunction of the protein causes the thinning of the follicles during the development of the embryo. The remaining follicles fail to develop in the right way, which results in weaker hair and subject to falling out.

The study in question links Map2 protein to follicle formation for the first time. Further studies could lead to "fix" the abnormal protein, effectively treating baldness. Genetic editing techniques could be used to repair the damaged gene, stimulating the development of new follicles. Until then, however, you will have to be patient.

Source: ansa.it

A team of South African researchers has identified the genetic variant that causes a very rare disease. It is a neurodegenerative condition that occurs between 12 and 14 months, causing loss of muscle tone and epileptic seizures. To date, only three children in the world suffer from this particular disease and two live in South Africa.

Doctor Alicia Byrne started with the analysis of a single patient. The child presented a series of symptoms common to different diseases, the combination of which however was impossible to link to a single cause.

The scientific literature did not describe any pathology superimposable 100% with that from which the child suffered. The doctor then started looking for similar cases and found two more. Once the three children with the same symptoms were identified, the researchers sequenced their DNA. Thanks to sequencing, anomalies emerged that hinder the absorption of the B vitamins.

The vitamins in question are essential for the development and proper functioning of the nervous system. When they are missing, the problems identified in the three children occur. The discovery allowed the development of a treatment capable of slowing down the disease. Thanks to weekly injections of vitamin B, doctors have reversed part of the devastating symptoms of the disease. The next step will be to develop prenatal and neonatal genetic tests in order to diagnose the disease before it starts damaging the nervous system.

Source: unisa.edu.au

Glycine receptors are present throughout the central nervous system and play a fundamental role in various psychological processes. An international team has decided to study how it works during embryonic development, involving researchers from: Max Planck Florida Institute for Neuroscience (MPFI); University of Toyama; Yamagata University; Cairo University; RIKEN Center for Integrative Medical Sciences; Setsunan University.

Thanks to shared efforts, they have shown that the alpha-4 glycine receptor (Glra4) facilitates not only brain development, but that of the whole embryo. To fully understand the role of a gene, we need to eliminate it and study what happens. As a result, the researchers eliminated the Glra4 gene in a group of guinea pigs using CRISPR-Cas9. In this way, the researchers were able to observe the role of the receptor in the early development of fertilized eggs.

The receptor facilitates the development of the blastocyst, thus guaranteeing the quality of the embryo and controlling its size. The researchers observed the role of other types of glycine receptors within development. Genetic analyzes have highlighted the presence of variants within a good number of animal species, including humans. In our case, Glra4 is a pseudogene and we use another type of glycine receptor, Glra2. The latter performs the same task in humans as Glra4 in mice.

At the moment, the team is studying the effects of receptor destruction in the brain of mice. Preliminary data indicate that the absence of Glra4 could be linked to some psychiatric disorders. However, the study is still ongoing.

Source: maxplanckflorida.org