A new genetic test could make the diagnosis of hereditary angioedema easier. The test analyzes all the SERPING1 gene. According to the study published in the journal Gene, the new method identifies types 1 and 2 of the disease much better than traditional tests. For this reason, researchers recommend its use alongside traditional diagnostic methods.

Hereditary angioedema is a rare genetic disease that causes cutaneous and subcutaneous swelling. Type 1 angioedema is caused by low levels of the C1 protein, while type 2 is linked to a defective protein. Type 3 is the result of some mutations in the coagulant factor XII.
In the new study, researchers analyzed the DNA of a group of subjects possibly suffering from angioedema. The aim was to give a more precise diagnosis and to better understand the nature of the disease. Tests reported more than 450 mutations in the SERPING1 gene. The gene provides instructions for making the C1 inhibitor protein.

Genetic tests usually used for the diagnosis of the disease are long and unreliable. In 5-10% of cases they are not even able to detect SERPING1 mutations. In fact, traditional genetic tests do not cover the whole gene and skip regions that are not translated into proteins. Unfortunately, mutations may also be present in these regions. The new test then also analyzes the parts of the gene previously ignored.

The study authors validated the new test using 102 samples of DNA analyzed by traditional methods. They also used 115 samples with negative results and 95 samples taken from relatives of the patients. The new test identified the mutation at SERPING1 in 91 patients already diagnosed, but on which the traditional tests had not worked. Furthermore, they identified 15 entirely new mutations.
According to the study, the new genetic test is 98.96% reliable and has an accuracy of 99.35%. The false negative rate was very low.

Source: angioedemanews.com

A study by the Center for Neuroscience and Synaptic Technologies of the Italian Institute of Technology (IIT) shows a new possible genetic cause of epilepsy. The researchers used stem cells from some patients to get sick neurons. They could thus observe the development of the disease and its causes.

The researchers started from induced pluripotent stem cells of some subjects with epilepsy. Starting from these, they developed neurons with the same genetic heritage as donors. In this way they were able to analyze the behaviors of diseased neurons. They also identified the genetic abnormalities that all patients have in common.

During the study, scientists recorded all the development of diseased neurons. They have observed electrical activities and have retraced the mechanisms underlying the disease. All operations impossible to perform in vivo, especially when talking about cells of the nervous system. At a later time, they focused on the genetic characteristics of neurons.

Diseased neurons showed a series of mutations of the Prrt2 gene. The anomalies identified provoke a malfunction of the gene, with consequent inactivation of the homonymous protein for which the gene encodes. This makes neurons more excitable than the average, which in turn causes headaches, dyskinesias and epileptic fits.

The research was published in the journal Brain and demonstrates once again the great potential of cellular reprogramming. Just a few cells of the patient are enough to identify the possible genetic causes of a disease.

Source: ansa.it

The expression Primary Ciliary Dyskinesia (DCP) indicates a whole group of congenital pathological conditions. They are largely diseases of genetic origin, characterized by a malfunction of the cilia of the respiratory mucosa. This results in the difficulty in removing excess mucus in the respiratory tract, which causes the appearance of other diseases.

In general, DCP affects about 1 person every 15,000. About 4,000 people suffer in Italy, although in many cases there is no clear diagnosis. The transmission is hereditary and linked to a genetic recessive mutation, so it is necessary that both parents are carriers. However, there are still unclear points in this regard, largely related to the large number of related proteins.

To date, approximately 250 proteins and mutations have been identified that could be linked to a malfunction of eyelashes. This explains why the clinical manifestations of primary ciliary dyskinesia are so heterogeneous. Nevertheless, about 50% of primary ciliary dyskinesia cases are linked to the so-called Kartagener syndrome. The syndrome is characterized by the presence of chronic sinusitis and bronchiectasis.

Usually the disease manifests itself in the neonatal period through respiratory problems and recurrent infections. Those who suffer often develop chronic bronchitis, which over the years can turn into bronchiectasis. Chronic sinusitis, nasal polyposis and otitis are also frequent. Common symptoms are muco-purulent secretions, as well as nasal obstructions.

Diagnosis is not always easy. In some of its manifestations, primary ciliary dyskinesia causes abnormalities in the viscera, cardiac and abdominal. In these cases, the diagnosis is certainly easier. However, the variety of clinical manifestations makes certain cases much more subtle and difficult to identify.

Source: dcp-pisa.it