Aurora magazine

One of the largest international studies on autism is underway, which also includes scientists from the City of Health and the University of Turin. The researchers analyzed the DNA of some 35,000 people, 12,000 with full-blown autism and 23,000 relatives of the same.

This allowed to shed light on the possible genetic causes of autism, which could be more than 1000. There are more than 1000 genes suspected of causing autism. Researchers used exome analysis to search for all genetic mutations related to the disease. About 30% of autism volunteers experienced at least one of the suspicious mutations. This made it possible to confirm 102 of the suspicious genes on the list. This is a huge step forward, if we consider that up to a few years ago there were only 65 genes identified.

Each of the 102 genes appears to be linked to a different form of autism. In spite of what many believe, in fact, under the heading "autism" there are a large number of conditions. For this reason, it would be more correct to speak of "autism spectrum disorders" rather than "autism" in the singular. Depending on the position on the spectrum, the symptoms and severity of the patient's condition change. One question remains: where do these mutations come from?

The mutations that emerged in the study are all de novo, therefore not present in the genetic makeup of the parents. This means that most of the spectrum disturbances are caused by random mutations.

Source: repubblica.it

Professor Ela Knapik of Medicine at Vanderbilt University Medical Center led a study on a newly identified genetic syndrome. The syndrome calls CATIFA. The team showed how collagen secretion causes a wide range of symptoms. This will facilitate the diagnosis of the disease and help find possible therapy.

The name CATIFA is the acronym in English of the main symptoms of the syndrome: cleft palate, cataract, dental anomalies, intellectual disability, facial dimorphism, attention deficit hyperactivity disorder. All of these symptoms would be caused by the mutation of a single gene. The anomaly would in fact cause the destruction of collagen, causing all the symptoms listed above in a chain.

To prove the role of the gene, the scientists used a group of zebrafish. Specimens born with a RIC1 mutation showed collagen deficiency and skeletal abnormalities. Instead, children with the corresponding genetic mutation were suffering from pediatric cataract, absent in fish. Nonetheless, a subsequent analysis showed that children also suffered from skeletal anomalies.

According to the study, all these symptoms are related to collagen deficiency. The substance is in fact the main component of the extracellular matrix. When the RIC1 gene is not working properly, collagen is missing and the matrix disintegrates, which causes a broad spectrum of symptoms. This observation could help in the study of other diseases characterized by unrelated symptoms, at least in appearance. Perhaps many of these cases are actually caused by a single genetic anomaly.

Source: mc.vanderbilt.edu

A team from the Whuan Institute of Virology examined the Coronavirus genome. According to initial analyzes, the new Chinese virus has a lot in common with the 2002 Sars virus. The two viruses have 79.5% of the genome in common and attack the respiratory system in a similar way. The discovery will facilitate the study of the disease and, consequently, the search for cures and vaccines.

To date, Coronavirus has infected at least 2,000 people and the number is constantly growing. In fact, it seems that the virus is extremely contagious, much more than the notorious Sars. It may also be less dangerous than Sars, which caused more than 800 deaths and panic waves worldwide between 2002 and 2003.

A research team coordinated by Dr. Peng Zhou analyzed the genetic sequence of Coronavirus. Scientists took fluid from the lungs of a sick patient and isolated the virus. On the surface of the Coronavirus they found a receptor identical to that of Sars, called Ace2. The receptor binds to the surface of the lung cells, penetrates it and opens the way for the virus. In this way, the virus enters the cell and spreads to the lungs.

The whole process is more efficient than what was seen in 2002: Coronavirus is spreading faster than SARS. However, we know too little about the virus to be 100% sure: we have neither incubation times nor all transmission methods. Probably, many cases have not even been diagnosed yet. Nonetheless, we must not panic.

While Sars had a death rate of 10%, that of Coronavirus would settle at 3%. This is without counting asymptomatic cases and cases mistaken for normal flu.

Source: ilfattoquotidiano.it

Breastfeeding women are less exposed to the risk of early menopause. This was stated in the study conducted by Dr. Christine Langton, of the University of Massachusetts. The doctor therefore confirms several previous studies, which had found a correlation between menopause, number of pregnancies and breastfeeding.

During pregnancy, ovulation stops completely. During breastfeeding, however, it slows down. Both phenomena preserve the woman's oocyte reserve, which takes longer to completely consume. Consequently, menopause should also come later. Despite all this information, it is difficult to define the actual timing of menopause. Usually it takes about 12 months to confirm it.

To get a clearer idea of ​​the actual timing of menopause, Dr. Langton analyzed data from 108,887 women collected over 26 years. About every two years, researchers collected information about women's health. These were based on data also concerning pregnancy, breastfeeding, symptoms related to menopause. In this way, the team defined the timing of menopause much more precisely.

According to the data collected, women who have been pregnant for at least 6 months are less likely to go into early menopause. The trend proved linear: the more pregnancies, the lower the risk. In addition, women who breastfed for 7-12 months showed a 28% less chance of suffering from early menopause.

Source: newscientist.com