Aurora magazine

An Australian study has identified new genetic causes of endometriosis. The researchers confirmed 9 previously identified genomic regions and added 5 more to the list. The DNA sections found have a unique genetic code that explains many of the disease related issues.

Anomalies in the regions of the genome identified are related to a greater risk of endometriosis. Discovery is therefore the first step in identifying pathogenic genes. In the future, it may lead to the development of new genetic screening tests, useful for rapid and accurate diagnosis.

The researchers examined DNA samples of 17,045 Australian women with endometriosis. They compared them with 191,858 samples taken from a control group, made up of healthy women. The analysis did not reveal the causes of endometriosis, but they clarified some of the genetic causes. This will facilitate the understanding of the biology of the disease and its causes.

It is estimated that approximately 10% of Australian women suffer from endometriosis. The disease causes debilitating pain during the cycle and infertility. Often the diagnosis is difficult and this makes it more difficult to proceed with the appropriate treatments.

Source: theguardian.com

An Alabama University team has identified biomarkers in cord blood that help predict some of the problems of premature babies. Along with prenatal screening, biomarkers could highlight the risks of death in the cradle and pulmonary abnormalities.

Bronchopulmonary dysplasia is a pulmonary anomaly that affects about 25% -50% of premature babies born. Many of these require prolonged oxygen therapy. Therapy saves them life, but interferes with the maturation of the still developing lungs. In fact, the alveoli conclude maturation during the last 14 weeks of gestation and the first 5 after childbirth. With oxygen therapy, maturation stops, which increases the risk of chronic lung disease.

The researchers examined cordonous bloodstream endothelial cells of 69 newborn babies born in the 26th week. Children weighed on average less than 1 kg. Of these 34 survived without bronchopulmonary dysplasia. Out of the remaining 35, 24 survived with dysplasia, while 11 died before developing it.
Venous endothelial cells have been cultured and tested for mitochondrial energy functions and oxidative generation. Mitochondria are cellular organelles that regulate cellular metabolism. Oxidative stress can damage them, causing the release of dangerous forms of oxygen-responsive species.

Neonatal cells with dysplasia or deaths had less oxygen consumption. They therefore produced more superoxide following the exposure of too much oxygen, releasing even more hydrogen peroxide. Superoxide and hydrogen peroxide are both types of oxygen-responsive species that have damaged mitochondrial DNA.

Damage to mitochondrial DNA has altered the functions of mitochondria. The alterations could therefore be used as a biomarker for the development of bronchopulmonary dysplasia. If you locate it in time, you will be able to change the therapeutic strategies.

Source: uab.edu

In the village of Crete Island Mylopotamos lies a gene that protects the heart and blood vessels. The discovery comes from a research team at Wellcome Trust Sanger Institute, coordinated by Dr. Eleftheria Zeggini. Thanks to the results obtained, new treatments for cardiovascular disease and the risk of heart attack could be developed.

Mylopotamos is a Greek village isolated from the rest of the world, whose inhabitants follow a diet rich in animal fat. With these premise one could think of a population with a very high rate of cardiovascular disease and infarction. Despite their diet, however, the inhabitants of Mylopotamos live long and in good health.
The researchers mapped the DNA of 250 inhabited Greek villages. They then compared it with the DNA of a control group of 3,200 people. Thus a genetic variant of the Dscaml1 gene, rs145556679, emerged. The rs145556679 variant corresponds to levels of bad blood in the lower blood. Thanks to the reduction of bad fats, it also reduces the risk of heart disease and circulatory system.

The rs145556679 variant produces a protein that forms nets within the blood vessels. These networks block bad cholesterol and prevent it from entering the vascular walls. This will prevent the formation of thrombi and reduce the risk of heart attack. The discovered protein is similar to Loxina, identified by Giuseppe Novelli's geneticist team at Tor Vergata University.

Both the protein produced by rs145556679 and Loxina are important for the development of new drugs. They open doors to new treatments that protect against heart disease and heart disease.

Source: ansa.it

Huntington's disease is a hereditary neurodegenerative disease that affects about 5-10 / 100,000 individuals. Estimates are, however, partial, since diagnosis is often difficult and there are many unknowing males. In view of the variety of symptoms, only clinical observations are insufficient. The most effective diagnostic method also includes DNA testing and family history analysis.

The first symptoms of Huntington's disease appear generally between 35 and 50 years. Sometimes it also manifests itself before the age of 20. The disease causes progressive degeneration of neurons in some areas of the brain, leading to atrophy. The subject begins to manifest behavioral deficits, such as sudden mood changes, learning difficulties, depression, and anger rages. In some cases it changes calligraphy, has involuntary movements, and has disturbances in balance.
Depending on the person, the symptoms are also very different. In younger subjects, motor disorders begin to manifest and the symptoms progress rapidly. After 55 years, progression is slow and the symptoms tend to be confused with those of other pathologies.

Huntington's disease is linked to the mutation of the IT-15 gene in chromosome 4. The gene encodes the huntingtina protein, whose functions are still partially unknown. It is only known that it plays an important role in embryonic development and adult brain health. A subject with the mutated IT-15 gene has 50% of the chances of transmitting it to her children, who will develop the disease more or less prematurely.

Because it has a large number of symptoms, the diagnosis of the disease is mainly based on the genetic test. It's just a blood sampling of the subject to ascertain the presence of the mutated gene. It is a delicate decision, as it also involves close relatives as children and brothers. In fact, diagnosis occurs in adulthood, when many people have already had children who may have been transmitting the diseased gene.