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Aurora magazine

The blog about the prenatal genetic of latest generation

Scientists develop a new treatment to stop progression of cystic fibrosis

A search of international scope revealed a possible new therapy for cystic fibrosis. It appeared that thymosin alpha 1, an immunomodulating been used in other areas, fights inflammation associated with the disease. The discovery of the scholars of the University of Perugia, University San Raffaele of Rome and George Washington University.

Doctors use the thymosin alpha 1 since 1979 as immunomodulatory. According to new research, the molecule is able to correct the genetic defect of cystic fibrosis and tissue. It also reduces the inflammation that characterizes the disease, resulting in improvement in symptoms and quality of life. All this can lead to develop a new type of treatment, which lengthens the life expectancy of sufferers. In fact, to this day, despite the many discoveries, a sufferer of cystic fibrosis does not exceed forty years.

Thymosin alpha 1 is the synthetic version of a peptide of the thymus, an organ that produces certain cells of the immune system. The researchers have tested on mice with cystic fibrosis and tissue samples taken from patients. The drug has corrected some alterations present in the bronchi and in the small intestine of mice. It also reduced inflammation and stimulated the maturation of Cftr protein whose deficiency causes the disease.

According to tests, the thymosin alpha 1 stops the progression of the disease, making it a promising therapeutic agent. It is also already approved and marketed in 35 countries, as a drug against viral infections and immune deficiency states. Now they will have to undertake further studies on cystic fibrosis specifically, in order to confirm the findings.

Source: corriere.it

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Some virus can trigger celiac disease

A study of the University of Chicago and Pittsburgh reveals that the role of reovirus in the development of celiac disease. The disease has a genetic origin, but the appearance is connected to a viral infection. The discovery could lead to development of a vaccine to be administered to high-risk children.

Celiac disease is an autoimmune disease that causes intolerance to gluten, a protein found in wheat. He knows he has a genetic origin, but the preparation is not enough to manifest. According to the study, to give input to the disease would be a virus itself symptomless and harmless to patients without genetic anomaly. In individuals already predisposed accelerate the onset of celiac disease.

Almost all human beings suffer from reovirus infection in their lifetime. In most people the infection is even preschoolers and rarely leads to a real disease. The researchers tested two strains of reovirus on mice predisposed to celiac disease. They found that one of the two reduced tolerance to gluten and, assuming you have the gene of intolerance to gluten, it causes the appearance.

Researchers believe that infection with reovirus induces an inflammatory bowel reaction that leads to the development of the disease. Celiac patients in fact have an excess of specific antibody to fight the reovirus and IRF1 molecule. The molecule reduces tolerance to gluten and, when you introduce the gluten in the diet, triggers an immune reaction. The immune system then labeled gluten as a harmful substance to the body. All this culminates in disease presentation.
Among the researchers involved there is also Dr. Disciple, University Federico II of Naples.

Source: corriere.it

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New explanation found for age-related female infertility

Age is one of the factors that influence the capacity to procreate. Researchers at the University of Montreal Hospital Research Center (CRCHUM) examined the genetic bases connected to this problem in women. They have thus found a new possible explanation.

The oocytes are the female reproductive cells before being fertilized and develop into ova. Women have a specific number, which over the years goes down. As the body ages, moreover, the quality of the remaining eggs diminishes. All this makes it much harder natural conception after 37 years of age.

Canadian researchers examined the genetic causes of oocyte cell. They identified errors in chromosome segregation, splitting pairs of alleles during the formation of germ cells. Errors cause oocytes with abnormal numbers of chromosomes, resulting in difficulty in conceiving.

The most likely explanation for the increase of chromosomal abnormalities is a malfunction of cohesin. It is a protein complex that holds together the chromosomes. According to many scholars, with age the cohesin deteriorates and the chromosomes lose cohesion. Canadian researchers have expanded this theory.

Microtubules are cylindrical structures internal to the cells, responsible for cell movement. When the cell prepares for division, the chromosomes unite around the helical structure and select them. After the division, they send the chromosomes to opposite ends of the nucleus of the daughter cells, precisely causing segregation.

The Canadian study shows that 50% of the eggs of older mice have dysfunctional microtubules. The problem therefore is not the age of the core, as that of the oocyte in its entirety. By placing a young nucleus into an oocyte old, in fact, the problems remain. The finding also applies to human women and could open the door to new methods to rejuvenate the eggs. During pregnancy it is important to undergo controls and prenatal screening tests: with such fetal DNA test, the mother can know if the fetus is affected by chromosomal abnormalities.

Source: medicalnewstoday.com

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Malignant glioma brain tumors: symptoms and types

Malignant brain gliomas account for 40% of cases of brain tumors. They are common, especially among older adults and affects glial cells. These cells support the central nervous system and produce myelin, the coating of the nerves.

The tumor grows in both diffusive manner along the fiber bundles, both in proliferative manner. In the latter case, the glioma form of the masses who make pressure on the brain. This causes seizures, motor and cognitive deficits difficulties. The changes that disappear sometimes completely with taking anti-edemigeni drugs such as cortisone. It is, however, a purely symptomatic treatment. Surgery is currently the best way to control the spread of the tumor.

In 60% of cases, gliomas occur with seizures or difficulty concentrating and memory. It then proceeds with a brain CT scan and an MRI, which show the masses surrounded by edema. In the case where the diagnosis is in doubt, it proceeds with a total body CT scan with contrast fluid. This will exclude other types of metastatic cancer.

For now, the treatment includes combination of surgery, radiation and chemotherapy. It removes the tumor and reduces the pressure on the brain, thereby improving symptoms. In this way the patient is able to maintain at least part of its functional integrity. Current treatments, however, suffer from the lack of knowledge that you have cancer. It is known that gliomas grow from mutated stem cells, which multiply in an uncontrolled manner and form the tumor mass. It is unclear why this phenomenon.

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