Aurora magazine

An international team of researchers has identified a rare genetic mutation, the cause of an inherited metabolic disease. The mutation has been found in the DNA of three children with degenerative diseases, without diagnosis. Although the gene is intact, it is repeated so many times that it is in fact unusable.

A phenomenon that is impossible to detect, except with whole-genome sequencing. At first, the researchers led by Dr. van Karnebeek failed to identify the genetic variant. The BC Children's team then intervened with a whole new approach. Scientists used manual analysis and combined bioinformatics tools. In this way they were able to identify the repetitions that prevent the gene from functioning. A discovery also possible thanks to a multidisciplinary approach.

The identified gene encodes the enzyme that regulates the glutamate-glutamine cycle. It is not yet clear how the anomaly causes the disease. It is likely to be the fault of excess glutamine or glutamate deficiency. The discovery finally provided a diagnosis to the three children and their families. Above all, it opens the door to the development of possible treatments even for more common diseases. Further research will be needed to develop gene or drug therapy.

To combat the effects of metabolic disease, dietary changes and dietary supplements may also be needed. All in order to slow down or even stop the damage caused by the disease.

Source: ubc.ca

In recent years we are seeing an increasing use of liquid biopsy. This technique makes it possible to perform non-invasive and safe genetic screening. It is used above all in the context of prenatal screening, but tests are also being developed to identify tumor biomarkers.

As technologies become more precise, the possible applications for personalized medicine increase. In the liquid biopsy, the doctors analyze the DNA of the cells in suspension inside the blood. In the case of the fetal DNA test, the fetal cells are separated from the maternal ones. It is also possible to analyze any tumor cells, so as to monitor the progression of the cancer.

This allows the therapy to be adapted to the body's response, without waiting for the positive or - above all - negative effects to be evident. Nevertheless, there are still many studies in progress on the subject of liquid biopsy. Two of the main studies concern the application against melanoma and tumors in general.

Dr. Tatiana Burjanivova's team has identified a melanoma genetic mutation. As a result, it can act as a genetic biomarker for early diagnosis and better treatment of the disease. Dr Hui Kang's team, on the other hand, identified high levels of SOX2-OT RNA in those suffering from lung cancer. The higher the levels, the more advanced the disease and the more metastases there are. Liquid biopsies promise to revolutionize laboratory tests over the next decade. Prenatal screening tests were only a beginning and there are hundreds of possible applications.

Source: eurekalert.org

Scientists from the Center for Cellular and Molecular Biology (CCMB) have identified the genes responsible for male fertility. If deleted or damaged, they cause sterility and also lead to the failure of assisted reproduction techniques.

The discovery could help many men who are unable to have children. In some cases, it could save them as expensive as useless fertilization cycles. It is estimated that around 1 in 7 couples worldwide have fertility problems. In about 50% of cases, the cause is of the male partner.

The factors that lead to infertility can be many: total lack of spermatozoa; sperm deficiency or lack of motility; spermatozoa with an abnormal shape. In some cases, changing lifestyle is enough to increase fertility levels. In many others, genetic factors play an essential role and assisted reproduction remains the only solution. The authors of the study analyzed some genes present in the Y chromosome, responsible for sperm production.

When these genes are missing, fertility collapses in an unrecoverable manner. According to the researchers, this would be the cause of about 8.5% of cases of male infertility. In the worst cases, subjects with this type of genetic variants do not even benefit from assisted fertilization. To identify the variants, the team analyzed the DNA of 973 infertile men. They compared it to that of 587 fertile men. This allowed them to identify a combination of variants typical of the Indian population.

Source: deccanherald.com

Opitz C syndrome is an ultra-rare disease that causes mental and physical disability. Having different genetic causes, the diagnosis is difficult and often late. Professors Daniel Grinberg, Susanna Balcells and Roser Urreizti are studying the genes linked to the disease.

Their goal is to facilitate the search for new treatments and prenatal diagnosis. This disease, besides being very rare, is characterized by a wide range of clinical patterns. With such premises it is normal for the diagnosis to be difficult. Most patients struggle to find an answer and are often treated for different illnesses due to misdiagnosis. The only way to solve the problem is to apply genetic sequencing.

The study in question aims to create a precise molecular profile of the causes of the pathology. To this end, the researchers examined a series of clinical cases diagnosed as Opitz C. This led them to identify new genetic mutations associated with the DPH1 syndrome, sometimes confused with the Opitz C. The researchers analyzed the effects of the new mutations linked to the DPH1 gene. By applying computational models, they evaluated the properties of these proteins in the mutated and normal versions. In particular they focused on its role during embryonic development.

The ultimate goal is to better understand how the variations work, so that they can be linked to the Opitz C syndrome or not.

Source: eurekalert.org