Aurora magazine

A study-Biomedical Campus University of Rome has identified a possible new Alzheimer's origin. According to the study, at the base there would be the death of neurons that produce dopamine, the neurotransmitter of memory. The phenomenon could partly explain the progressive loss of memory, the main symptom of the disease.

Most of the research focused on the hippocampus. It is the area of ​​the brain encodes new memories and, where necessary, recall old ones. The new study, however, examines the midbrain, located deep in the brain. Here there is an area called the ventral tegmental area, where there are the cells that produce dopamine. The disease cause the death of these cells, reducing the hippocampus dopamine intake. This would explain not only the loss of memory, but also their mood disorders of the disease.

The researchers analyzed the morphological and behavioral aspects of guinea pigs with the disease. In particular, they performed the counting of neurons as the disease progressed. At the same time, they evaluated the behavioral changes in mice. This identified a deficit in dopamine-producing neurons, and consequently, in the neurotransmitter levels.

To confirm the theory, the researchers administered an inhibitor of dopamine degradation of the guinea pigs. The mice thus treated recovered lost functions: they recovered the memory and also vitality. Nevertheless, it worked only in those in the early stages of the disease.

The Roman study is in contrast with the theory to more widespread now. According to this, Alzheimer's is linked to the accumulation of a protein produced in brain cells, beta amyloid. The Roman team, however, has shown that only 5% of cases are relatable to an alteration in the amyloid gene.

Source: corriere.it

Researchers at NYU Langone Medical Center and the Perlmutter Cancer Center have created a genetic test for the diagnosis of skin cancer. The DNA test analyzes the person's blood, to confirm or refute the presence of the disease. This makes it easier to early detection and intervention for time against the disease. For the moment it is only available for research, but in the future may open the clinical setting.

The new genetic test gives results in just 48 hours and is meant for early diagnosis. The anomalies of the BRAF and NRAS genes increase the risk of melanoma and are responsible for 50% of cases. Are there any DNA tests to detect the presence of mutations, which are useful for subjects with familiarity. They can, however little for those suffering from sporadic forms of melanoma. The test in question is designed precisely to these people.

The test identifies your melanoma DNA in the blood of patients. This allows you to monitor the levels of DNA fragments, or any changes in the gene that controls the TERT. The latter is the telomerase reverse transcriptase, which is a protein that helps cancer cells to maintain the physical structure of the chromosomes. Where present, the mutation helps cancer cells to multiply and hinders treatment.

The goal of researchers is to facilitate the search for effective treatments. The tests also help to understand whether current treatments are working or if the cancer is expanding. The monitoring would be faster and healthier than the traditional one and would allow for time to change therapy. Nevertheless, for the moment the research is still ongoing and will require additional trials to validate the test.

Source: eurekalert.org

What are the genetic risk factors of glioma? A consortium of 14 research centers analyzed the genetic profile of the brain tumor. In this way, he has identified 13 new markers, which are added to the 13 already known. The discovery will make it easier to assess the risk of illness and develop personalized treatments. The international team analyzed the genomes of nearly 12,500 people with glioma.

This compared with that of 18,000 healthy individuals used as a control group. The operation helped to define the different types of cancer at the molecular level, also taking into account the degree of malignancy. In addition, it highlighted million variants involved in tumor development and 13 new markers. Depending on the type of glioma and its aggression, the researchers identified several genetic causes. All identified alterations involving single nucleotide of DNA, the letters of the double helix. Despite being very small, affecting fundamental genes to control aging and cell proliferation.

The changes are also present in genes with functions related to cell survival. To date knowledge of risk factors of glioma was limited. According to Melissa Bondy, one of the authors, the study has provided a much broader genetic profile of the disease. This has allowed the development of new theories on the development and evolution of the tumor. The discovery could save the lives of millions of people, because gliomas are among the most common brain tumors in adults. Before the research has implications in the clinical setting will take time.

The objective is to calculate the risk of cancer based on the presence or absence of certain genetic abnormalities. But it is still unclear how these mutations interact with each other. In addition, the quantification of risk still lacks the precision seen in genetic testing for breast and ovarian cancer. The road traveled, however, is the right one.

Source: repubblica.it

An international team of Mount Sinai Hospital and the UConn School of Medicine have discovered how to deal with some rare forms of cancer. The credit goes to the use of latest-generation genome sequencing, similar to what is used for prenatal diagnostic tests. The study demonstrates the effectiveness of the approach and opens the door to new treatment options for rare diseases.

The researchers carried out the sequencing on tumor and normal tissues of 17 patients. The subjects were suffering from parathyroid carcinoma, a rare form of cancer for which no treatment exists. The tumor causes progressive metabolic complications that cause calcium levels in the blood very high, weak bones, kidney damage and eventually death. At the moment the only hope is early surgery.

The analysis revealed mutations in genes linked to the development of cancer and paths. Among these are the CDC73, the path PI3K / AKT / mTOR and Wnt, already known. This in-depth characterization has revealed the genetic mechanisms involved in parathyroid carcinoma. The discovery could lead to the development of the first treatment for patients examined.

For the moment it is the largest genome sequencing ever done among those dedicated only to parathyroid carcinoma. The approach proved to be potentially useful not only for this specific disease, but also for many other cases. The sequencing fact allow in-depth study of many diseases neglected today, as too rare. It will also provide a new point of view, even when there are few cases to study.

The study combined two great excellence. On one side are the researchers at UConn, specialized in parathyroid tumors and endrocrini diseases. On the other are those of Mount Sinai, the first in the world to genome sequencing and bioinformatics analysis.

Source: mountsinai.org