Aurora magazine

By now everyone is very familiar with alcohol damage during pregnancy. According to a study led by Rutgers University-New Brunswick, drinking too little during pregnancy could alter the DNA of the fetus.

Thanks to this discovery, it could be easier to diagnose any congenital problems and intervene in time. A previous study showed that, consumed in large quantities, alcohol alters DNA in adults. The study in question, instead, focused on children.

Scientists have indeed analyzed the effects of alcohol on the DNA of 30 pregnant women and 359 children. Alcohol consumption is linked to changes localized in two genes: POMC, which regulates the organism's stress response; PER2, which influences the biological clock. These are present both in women who drink during pregnancy and in their children, exposed to the substance during the nine months.

In order for these effects to manifest itself severely, consumption must be above 3 drinks per month. However, since alcohol passes from the mother's body to that child, even smaller amounts can be harmful. Disorders related to fetal alcohol syndrome include physical and intellectual disabilities, behavioral problems, learning difficulties. Furthermore, alcohol consumption increases cortisol levels in the fetus, the stress hormone. This in turn causes problems in the immune system, which in turn can cause serious health problems.

Source: rutgers.edu

Hypercholesterolemia is a genetic disorder that remains largely undiagnosed. This causes alarming increases in cholesterol levels, which can result in heart attacks and strokes. It is estimated to be the most common fatal genetic disorder in First World countries. In fact, only one in Europe suffers one person every 250/200.

People suffering from hypercholesterolemia have high levels of "bad" cholesterol or LDL, caused by a mutation in the genes that remove it from the body. Cholesterol therefore continues to accumulate, until it forms large plates and blocks the walls of the arteries.

The children of those suffering from this condition have a 50% chance of suffering in turn. High levels of LDL cholesterol since birth increase the risk of heart attacks by 10-13 times. The family history and blood tests are then used to identify the disorder. For more precise and early results, however, genetic tests may also be useful. In this way the patient suffering from hypercholesterolemia can fight the condition with drugs and a healthy lifestyle.

Genetic testing can also be useful for those who have just had a heart attack. Systematic screening can identify those suffering from this condition, reducing the risk of a second attack. In addition, it can also be helpful for any children and grandchildren, who can check in time if they are also at risk.

Source: escardio.org

Scientists at the University of Edinburgh have created a genetically modified sheep. The animal will be used to study Batten's disease, a lethal genetic disease with a diagnosis of a few years. Scientists will use the guinea pig to test new possible treatments for the disease.

The most widespread animal models are rats and mice. A larger mammal was needed to recreate the complexity of a child's brain. For this reason, scientists decided to reproduce the conditions of the disease in a sheep, an animal with a brain relatively similar to the human one. In particular, they reproduced the conditions of Batten disease caused by variants in the CLN1 gene. Batten's disease causes vision loss, motor and cognitive problems. All these symptoms result in convulsions and inevitably lead to the doors. There are different types and the quickest is the one caused by the CLN1 gene.

Scientists used Crispr-Cas9 to introduce the genetic abnormality in sheep embryos. From this first phase three animals were born. The guinea pigs soon began to show symptoms similar to those of human children. This is a crucial detail, because it determines the actual reliability of the models. Thanks to these observations, it was possible to better understand the development of the disease, starting from the earliest symptoms. Starting from animal observations, scientists are developing a series of possible treatments. Among these is gene therapy, or the introduction of a healthy version of the gene using a virus.

Source: theguardian.com

Assisted fertilization technologies like IVF seem to leave their mark on genes. In fact, children conceived with these technologies manifest variants of genes, many of which are measurable at birth.

A study published in Nature proves that these signs, however, disappear over time, usually by adulthood. People conceived in this way are even healthier than average. The researchers measured the epigenetic profile of 158 people conceived with assisted reproduction.

They compared it to that of 75 other people, conceived instead in a natural way. Furthermore, they divided the first group into two: those conceived with in vitro fertilization (IVF) and those conceived with the intratubal transfer of gametes (GIFT). Both techniques require stimulation of the ovaries. Scientists analyzed the DNA of adult volunteers - all between 22 and 35 - and when they were children. None of the adults conceived with assisted reproduction showed above-average health problems, although the samples of when they were children showed variations.

Comparing the samples of adults and children, in fact, clear epigenetic changes occurred over time have emerged. Most of the variants that were present as children are absent in the most recent samples. This suggests that they are resolved naturally over time. It is therefore likely that the type of conception does not affect the activity of genes in the long run.

Source: theconversation.com