Aurora magazine

Ovarian cancer is a killer still too little known in Italy. The latest estimates say that 60% of women do not know him, this despite the 6 thousand new cases diagnosed each year only in the country. As opposed to other types of cancers, prevention tools are few: the most effective weapon is a DNA test to seeking the BRCA mutation.

It is estimated that 1 in 4 ovarian cancer is due to the mutation of the BRCA genes. For this reason, they are springing up more and more initiatives to promote genetic testing including how many have had a case family. This allows to identify the risk of cancer for time, so as to undertake the prevention paths required to reduce the risk. Unfortunately 75% of Italian women is not aware of the genetic mutation, although increases by 46% the chances of getting the disease.

Figure out if you are carriers of the mutation can be crucial for all women. Those who have already received a diagnosis of ovarian cancer can access more targeted treatments, which slow down the disease and reduce the risk of recurrence. An example are the drugs PARP inhibitors, which exploit the same BRCA mutation to bring the tumor cells to death. The healthy women, however, can activate a series of prevention strategies.

Ovarian cancer is lethal in most cases, because of the difficulty of identifying the symptoms. Almost 80% of the diagnosis is made when the cancer is already at an advanced stage, which greatly reduces a possibility to use effective treatments.

A team of researchers from the University of Cambridge, Great Ormond Street UCL Institute of Child Health and the National Institute for Health Research has identified a new genetic disease that affects the ability to move. The discovery will make it easier to treat certain forms of dystonia, making it difficult if not impossible to control voluntary movements.

The researchers have used the latest DNA sequencing techniques, the same ones that are often used for prenatal screening test. They thus identified a mutation in the gene KMT2B in 28 children with dystonia. The gene in question controls the production of a protein crucial for the control of voluntary movement. From the moment it does not work as it should, problems occur in the expression of other genes responsible for motor functions.

Some of the analyzed patients had received an incorrect diagnosis of cerebral palsy. Because doctors were trying to treat the wrong disease, the subjects did not receive effective treatments for them. Following the newly diagnosed, however, doctors have resorted to ad hoc treatment for patients. They used deep brain stimulation, a technique that involves electrical stimulation of brain regions involved in the movement. The subjects thus treated showed significant and lasting improvements, which in one case lasted six years. Children have expanded their range of movements and some have begun to walk again.

Following the success, the team has suggested including analysis of gene KMT2B between the routine checks for those affected by dystonia. Such an operation could indeed help to identify other cases of wrong diagnosis.

Source: medicalxpress.com

A study by the University of Ohio State, Arthur G. James Cancer Hospital and Richard J. Solove Research Institute reveals that 16% of under 50 suffering from colorectal cancer has some genetic mutations recurring. Some of these mutations affecting genes that normal DNA tests do not touch, leaving behind some subjects at risk. The discovery could then trigger major changes in the control methods used to date.

The researchers analyzed blood samples and tumor tissue taken from 450 patients between 17 and 45 years, who had undergone operations for the removal of the tumor between 2013 and 2016. The traditional screening for colorectal cancer focus of specific genes, which are known to be linked to that form of cancer. The team in question has instead carried out a parallel analysis of multiple genes. It analyzed both genes directly explicable in colorectal cancer, and those associated with other forms of cancer.

The researchers expected to find a very high percentage of Lynch syndrome, a hereditary form of colon cancer. Of 450 subjects, only 36 only showed this mutation, while 34 had only explicable mutations to other forms of cancer and especially breast cancer. 33% of these subjects had no trace of the disease in the family history. This means that in other situations would hardly have made a specific screening for that type of anomaly.

The study shows how the spectrum of relevant genetic mutations for cancer of the colon and rectum is very broad. Much larger than the researchers thought. The team then suggests a genetic screen wide-ranging, as well as identify any predispositions and address them in the bud. Maybe one day could use a similar approach for prenatal screening test, so as to identify the bud any possible danger.

Source: coloncancernewstoday.com

is a form of human spongiform encephalopathy. His best-known form is the so-called "mad cow disease", which made headlines in the late '90s and early 2000s. 

In reality bovine spongiform encephalopathy is almost disappeared. Today 85% of cases are sporadic and explicable to 10% of a genetic. Creutzfeldt-Jakob disease has a long incubation period, completely with no symptoms. That makes it impossible to detect in time and is always fatal.

The disease causes a rapid degeneration of the central nervous system, but without causing inflammation or immune system reactions. The only obvious sign is an abnormal form of the prion protein, which accumulates in the cerebrospinal fluid and causes very characteristic lesions. This allows you to formulate a precise and definitive diagnosis, which unfortunately comes after the patient's death.

Creutzfeldt-Jakob disease occurs sporadically around 60 years, and within six months kills the patient. Despite causing dementia, mutism, visual difficulties, regular analyzes are normal. Electroencephalography may show periodic changes, while in 50% of cases the MRI showed abnormalities in the cerebral cortex. They do not know the causes for this form and the researchers found no genetic mutations.

10% of cases of Creutzfeldt-Jakob may be ascribed to the PrP gene mutation. It is the gene that is responsible for coding for the prion protein. When malfunctioning, the protein is more likely to accumulate and damage nerve cells, bringing them quickly to death. Currently lacks a way to diagnose the disease in the early stages when the symptoms become obvious, the course is quick and inevitably leads to death.