Researchers at the University of Queensland have discovered how to diagnose type 1 diabetes in infants. The discovery could lead to the development of an ad hoc genetic test for early diagnosis. In this way it will be easier to identify the children most at risk, even in the absence of cases in the family.

Many children diagnosed with type 1 diabetes have never had cases in the family. This makes it more difficult to carry out a specific prevention path for them. The risk of complications related to late diagnosis also increases, some of which are very serious. The genetic test in development, however, would allow you to immediately find who runs the greatest risk of getting sick.

The researchers analyzed data collected in 10 years from two cohorts of children with type 1 diabetes. Thanks to the analyzes, they identified a detectable gene expression within the first year of life. Combined with a genetic risk score, it allows to evaluate the chances of getting sick. This expression is useful for identifying those who, despite having a low score, develop diabetes anyway.

Keeping diabetic children monitored immediately reduces the risk of diabetic ketoacidosis, a medical emergency. In children under control the incidence is 5%, compared to 40% of unmonitored children.

Source: uq.edu.au

A study by the CNR of Rome describes Jazz-Zif1, the artificial gene that could fight Duchenne's syndrome. The new gene increases the levels of utrophin and corrects the lack or absence of dystrophin. In this way it works against Duchenne Muscular Dystrophy and relieves its symptoms.

Duchenne is caused by the lack of a protein, dystrophin. This leads to the progressive degeneration of muscle tissue and thus making motor skills. According to some studies, utrophin would be able to replace dystrophin, at least in the main functions. Injections of the protein have in fact improved the conditions of animal models affected by the disease. How to make the effects permanent?

The team of Rome has developed an artificial regulator gene, able to increase the production of utrophin. Jazz-Zif1 is almost identical to a natural gene, which should zero the host's immune response. Once injected into the body, then, the gene would be able to camouflage itself and regulate protein levels without external interventions.

To make the artificial gene as natural as possible, the researchers used a viral vector. AAV ensures that the gene has excellent specificity and leaves the muscle district to direct gene expression. In this way it lowers the risk of immune reactions in response to Jazz-Zif1.

Researchers studied the action of Jazz-Zif1 on adult mice with dystrophy. According to the first results, the treatment induced a good muscle recovery. In particular, it has proved beneficial for neuromuscular junctions, the areas in which utrophin is more present. It has in fact increased the quantity and quality, with benefits for the guinea pigs' health.

Further studies will be needed. This does not mean that in the long run this strategy could give rise to new treatments against Duchenne syndrome.

Source: lescienze.it

Genetic tests for Lynch syndrome could save thousands of people. Unfortunately, the hospitals that perform them are still too few, at least in the United Kingdom. It is estimated that 8 out of 10 British hospitals are ignorant of official guidelines.

Those suffering from Lynch's syndrome have 80% more chance of developing bowel cancer. The genetic anomaly makes standard therapies less effective and therefore requires more energetic treatments. For this reason, British hospitals should carry out a genetic test to all those diagnosed with bowel cancer. In fact, in most cases this does not happen.

It is estimated that there are 175,000 carriers of the Lynch syndrome gene in the United Kingdom. Many of these do not know this and, in the case of cancer, they risk wasting time on unnecessary treatments. The genetic test would allow to identify the anomaly in the early stages of the tumor and to act accordingly.

The Bowel Cancer UK Association investigated how many hospitals follow the guidelines set up by the National Institute for Health and Care Excellence. According to the data collected, 83% of the facilities do not carry out genetic tests for Lynch syndrome where it is needed. A very serious fact, considering that only 5% of people with Lynch syndrome are aware of it.

According to the study, in 91% of cases the lack is due to the absence of funds. In second place there is the absence of qualified staff, followed by the lack of knowledge of the guidelines.

Source: telegraph.co.uk