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Ultime notizie dal mondo della genetica


Found 102 genes associated with autism

The American Society of Human Genetics (Ashg) conducted the largest study on autism spectrum disorders. The researchers sequenced and analyzed nearly 38,000 genetic samples, which led to the discovery of 102 genes related to the disease. The last study in 2015 had identified only 65. The researchers presented data at the annual Ashg 2018 meeting in San Diego, California.

To perform the study, the scientists analyzed 37,269 samples, almost twice as many as previous studies. In this way they managed to analyze a greater number of genes and variants. Furthermore, they incorporated the latest advances in analytical methodology. All these elements together have allowed an unprecedented sequencing of the exome.

The exome is the portion of the genome that produces proteins. The genes contained here give shape to all the characteristics of our organism. When they do not work as they should, they cause abnormal manifestations such as autism. That's why the sequencing of this area is so relevant and has given exceptional results.

Researchers used complex statistical methods to identify 102 genes linked to autism, with a 10% error rate. Of these, 52 are related to autism spectrum disorders, 47 autism proper and intellectual disabilities.

The discovery will allow to observe not only the genesis of autism, but also that of other neurodevelopmental disorders. The goal is to better understand which genes are causing the wide range of disorders in the spectrum. In this way it will be possible to identify the mechanisms behind the heredity of autism.

Source: repubblica.it

Stronger children with fish oil during pregnancy

Fish oil intake at the end of the third trimester is linked to an increase in body mass index in the child. The news, however, is far from negative. The children analyzed by the Danish team and the studies of the guinea pigs show an increase in lean body mass, not fat mass. Nevertheless, the study stops at the sixth year of life of the children: the consequences later with over the years are unclear.

The study involved 736 women who took fish oil or olive oil from the 24th week of pregnancy. After delivery, the researchers measured height, weight and head circumference of the children. They repeated the operation 11 times during the first 6 years of children's lives. According to the data, the children showed a higher than average body mass index.

The doctors integrated measurements with osteodensitometry, an examination to calculate bone density. It was found that the largest body mass was the result of an increase in lean body mass, not fat mass. It therefore appears that pregnant fish oil stimulates the growth of bones and muscles.

At the age of 6, children exposed to pre-natal fish oil had a total body mass 395 g higher than average. Of these, 280.7 g were of lean mass and only 116.3 g of fat mass. There are no data after 6 years, further studies will be needed to know the consequences after this age.

Source: bmj.com

Pregnancy after a transplant? It can be

Is it possible to have a child after having undergone a heart transplant? According to data collected from 1988 to today, the answer is yes. The future mother must however follow the instructions of the doctor and take some precautions. Only in this way can it safeguard its own health and that of the child.

The only register for post-transplant pregnancy was in the United States. A team of specialists from the Degasperis Cardio Center at the Niguarda hospital in Milan decided to remedy it. The center is one of the most important in Italy for heart transplants, second only to the Padua Polyclinic. The doctors then followed 11 former patients during pregnancy.

The women underwent transplantation between 1985 and 2016. One of them had two children and none of the 12 children showed birth damage or signs of heart disease. It is the first time that such a study shows a rate of 100% of children born alive. The conclusions of the study are therefore positive: having a child after a transplant is possible.

The desire for motherhood is also indicative of how much the survival rate has increased. Ten years after the transplant, about 70% of patients survive. Although life expectancy is lower than average, there is still time to have a child and see it grow.

Doctors recommend waiting at least a year after transplantation to cope with pregnancy. In this way the risk of cardiac vasculopathy and rejection can be excluded, which would reduce life expectancy. Furthermore, it is important to always consider the risk of premature birth and reduced birth weight.

Source: lastampa.it

Breast cancer: too many women neglect the genetic test

In the case of breast cancer, genetic testing can be a valuable source of information. Yet only half of the women who would benefit from it do it. Because? A study by Professor Steven J. Katz of the University of Michigan has investigated the possible reasons.

According to the study author, the surgeon's approach to genetic testing is crucial. The researchers interviewed 3,910 women with early-stage breast cancer. They then examined the approaches of the 370 surgeons who took care of them. It was found that only 27% of women had the genetic test, including 52% of women at high risk. This despite what is reported in the guidelines.

The guidelines recommend testing for all women at risk for genetic mutation. The risk factor is determined based on age, family history, tumor characteristics. Women with very high risk - around 20% - were more likely to have had the genetic test done. For the others, however, the surgeon's advice was crucial.

The doctor's advice determined a 17% variation in the probability of carrying out the test or not. Some doctors have insisted more than others on the importance of genetic testing, beyond the level of risk. Depending on the doctor, the likelihood of a woman at risk taking the test ranged between 26% and 72%.

At a later stage, the researchers asked the doctors what they thought of genetic tests. They found that the skills in this regard were very variable, as well as the tendency to advise them or not. This suggests that more training is needed so as to bring medical professionals to a level that is at least similar.

med.umich.edu

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