If our brain has reached its current size, the merit is all of three genes found only in human DNA. The discovery comes from two independent studies, one from the Université Libre de Bruxelles, the other from the University of California in Santa Cruz.

The two research groups were investigating which genes are active only in the brains of human beings. During their studies, they identified three genes belonging to our species and absent in all others. In a second step, the researchers carried out a series of comparative genetic analyzes, so as to draw up a possible history of these genes.

The first gene appeared about 4 million years ago, in the DNA of one of our direct ancestors. In later times, the other two genes have also developed. The combined action of all three made the human brain triplicate its volume, reaching its current size.

The three genes are part of the Notch family of genes, essential in embryonic development. The researchers named them NOTCH2NL A, NOTCH2NL B and NOTCH2NL C. They are on chromosome 1, a region related to genetic diseases affecting the brain. Microcephaly and schizophrenia are linked precisely to the lack of small fragments of DNA in this region. The presence of duplicate fragments, on the other hand, causes macrocephaly and autism spectrum disorders.

The genes discovered by the two teams appear to be children of the NOTCH2 gene, linked to the differentiation of stem cells. The three genes could be partial copies of NOTCH2, later modified by cellular machinery. While NOTCH2 pushes stem cells to generate mainly neurons, however, NOTCH2NL push stem cells to produce other stem cells. This results in a greater production of neurons that would explain the increase in brain volume.

Source: lescienze.it

A study by the Hospital Saverio De Bellis reveals the genetic variant of longevity. They have 8 centenarians out of 10 and protects against aging, diabetes, tumors and cardiovascular diseases. The discovery will help to better understand the aging processes. Furthermore, it will be a valuable tool for personalized medicine.

The researchers started with a series of international studies, which in turn involved over 15 thousand people. Thanks to the data of these volunteers, scholars have identified a genetic variant of very long-lived people. It is estimated that the variant is present in about 80% of the centenarians worldwide.

What does the beneficial anomaly consist of? The variation affects a small piece of DNA, the FOXO3 gene to be more precise. Those born with this genetic trait are more resistant to cellular stress. This allows him to age better and to a large extent to avoid diseases such as diabetes and cancer. Moreover, the owners of the variant are also more resistant to possible risks of cancer.

The mutation of FOXO3 seems to have positive effects even in unsuspected times. It is in fact linked to a lower risk of fetal malformations. Its carriers also better manage unfavorable weather conditions and possible power problems.

The study places a new piece in the framework of medicine and precision diagnostics. This discovery will help develop new genetic tests, which preach the possible effects of a drug before administration. The variant could also become a predictive marker that helps in the context of prognostic and therapeutic evaluations.

Source: repubblica.it

All you need is an antibody to fight three rare genetic diseases. The antibody is called canakinumab and the three diseases are all characterized by fever and recurrent inflammation. The news of the discovery was spread by the Bambino Gesù children's hospital in Rome, which coordinated a world experimentation.

The study examined three genetic diseases: periodic syndrome associated with tumor necrosis factor receptor 1 (Traps); family Mediterranean fever (Fmf); mevalonate kinase deficiency (Mkd). For the first of the three there is a therapy, ineffective in 5-10% of cases. The other two diseases were instead without treatment. The researchers then looked for a way to stop inflammation and thus uncontrolled fevers.

The study involved 181 patients from 15 countries. The researchers used the canakinumab antibody on them, which blocks the action of interleukin 1. This is a key molecule in all three genetic diseases. Acting on it, the febrile episodes almost completely disappeared and the patients returned to a normal life. Among them there is also the nineteen-year-old Chiara, who has resumed her life after the treatment.

Chiara is affected by familial Mediterranean fever and does not respond to colchicine therapy. This forced her to live almost as a recluse, undermining friendships and academic achievement. Because of the illness, Chiara had to give up a normal childhood. The treatment of the Child Jesus has restored her control over her life, allowing her to attend university and to cultivate new friendships.

Source: repubblica.it