According to a study by Dr. Amy Sturm, the genetic test for familial hypercholesterolemia should become a standard. The test should include the analysis of genes encoding LDL receptors, apolipoprotein B and PCSK9. If performed on those most at risk, the tests would reduce the risk of complications related to the disease and would facilitate prevention.

The team of researchers believes that the genetic test should be proposed to those with a family history of hypercholesterolemia. The analysis should be done both to adults and children, in which the first signs of the disease can be identified. This would allow early intervention against coronary pathologies and avoid complications in adulthood. For the same reason, tests should be performed for all children without a known family history.

Doctors recommend proposing genetic testing not only for children but for all first-degree relatives of people with hypercholesterolemia. They should also perform the test: children with signs of high cholesterol; people with a history of coronary, personal or family history.

Knowing whether hypercholesterolemia is caused by genetic variants helps to choose the best treatments. In these cases, in fact, acting only on the lifestyle may not be enough. The first studies in this regard showed clear improvements in subjects who received ad hoc treatments following the genetic test.

Source: medpagetoday.com

According to a study by the University of Southern California, the level of education is linked to 1271 genetic variants. The team of doctor Daniel Benjamin has analyzed the DNA of more than a million people. He thus identified genes related to neurocerebral development and communication between neurons.

The level of education depends largely on psychological and cultural factors. However, it seems that genetics also plays a role. A 2016 study published in Nature had analyzed the genome of 294,000 subjects. He thus identified 74 genes related to the level of schooling. Many of these are expressed mainly in neuronal tissues and regulate the development of the nervous system. Nevertheless, it did not answer a question: where does genetics end and education begins?

The first fact that emerges is that the level of education has a component of familiarity. The children of graduates are more likely to graduate. Merit can be partly of hereditary cognitive abilities, but the effect of education can not be neglected. The study in question then examined how much the innate component is strong and which genes are involved.

At first the team examined the genome of 1.1 million people and identified 1271 genes. All genes work in the neurodevelopment process and determine how neurons communicate with each other. In particular, they are relevant for the production of neurotransmitters and synapses, which connect neurons and transmit nerve signals.

Later, researchers focused on the correlation between genes and mathematical abilities. This secondary study has unveiled hundreds of possible genetic associations, which will however be examined.

Source: lescienze.it

An international research team has developed a genetic test for acute myeloid leukemia. The test identifies the first signs of the disease in healthy individuals, allowing it to be diagnosed even 10 years in advance. This allows to proceed with therapies that block pre-leukemic alterations in the bud.

The researchers identified those affected by genetic mutations related to this severe cancer of the blood. According to reports, the anomalies can be detected in the blood up to 10 years before acute myeloid leukemia develops. A very broad time window, which gives ample room for prevention and could reduce the mortality rate. It is estimated that 90% of those who get sick after age 65 can not do it.

In 2014 Professor John Dick, one of the authors of the study, had discovered pre-leukemic stem cells in a blood sample. Although these stem cells still behave normally, they already show the first anomalies that will lead to the disease. Starting from this first observation, the professor began to observe the evolutionary process of the cells. He found that the first traces of leukemia are detectable long before the symptoms occur.

To support the thesis, Dick and colleagues examined 550 thousand people. They have studied the state of health and lifestyle over the course of 20 years, identifying all the factors related to the risk of cancer. 124 participants became ill with acute myeloid leukemia 6-10 years after the start of the study. The researchers compared them with 676 people of the same age but healthy, so as to identify any genetic differences.

Thanks to a genetic sequencing tool, the researchers identified genetic alterations typical of the disease. They also found that alterations were present and detectable long before leukemia developed. Now they are hoping to use this discovery to develop screening tests available to everyone, so as to facilitate the prevention of acute myeloid leukemia.

Source: quotidianosanita.it