Aurora magazine

Alkaptonuria is a rare genetic disease, also called "dark urine disease". The name derives from the characteristic color of the urine and connective tissues of those who suffer from it.

Those suffering from alcaptonuria have a defect in the 1,2-dioxygenase homogentisate enzyme. This causes an abnormality in the metabolism of the amino acid phenylalanine, which leads to the progressive accumulation of the homogentisate. It is a toxic substance, which is collected mainly in the skin and connective tissues of the body. In particular, it is present in the articular cartilage and damages it slowly.

The disease causes joint injuries, obstruction of the heart valves, kidney stones and liver problems. It is manifested through the oxidation of the homogentisate, which leaves stains on the eyeball and on the skin. Moreover, when the body expels the substance through the urine, these colors brown-black.
Alkaptonuria is a genetic disease that can be transmitted through an autosomal recessive mode. It only manifests if both parents are healthy carriers of the anomaly. In this case, for every pregnancy there is a 25% probability that the child is ill.

The diagnosis of alcaptonuria occurs through a specific urine test. Despite the characteristic dark color, many patients do not realize they are sick until adulthood. Around the age of 40 the complications typical of the disease begin to appear. At that point they turn to the doctor and the diagnosis takes place.
At the moment there is no definitive therapy against alkaptonuria. The one available consists of antalgic and anti-inflammatory drugs, to accompany a diet rich in vitamin C. It seems that the vitamin slows the accumulation of dark pigment in the cartilage.

Source: telethon.it

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

The team of Dr. Lindsey Montefiori has developed a 3D map of the genes that cause cardiovascular disease. The map will facilitate the study of these diseases and the development of new treatments. Inside there are more than 500 genetic variants, all linked to an increased risk of cardiovascular disorders.

Most of the genetic variants are located in non-coding areas, that is, they do not code for a particular protein. This makes it harder to study them because it is unclear what role they play in the appearance and development of a disease. However, it is thought that they influence the other genes, determining their activation and functioning. Often they are very far from the genes that control, but they can influence them thanks to repetitions that modulate the activity.

Recent studies have made it possible to map these genetic variants and link them to the genes they control. The team of Dr. Montefiori has used this technology to create a 3D map of genetic variations related to cardiovascular diseases. The researchers studied more than 10,000 genetic mutations related to genetic diseases. They found that 1,900 of these have a physical link with 347 genes that are decisive for the functioning of cardiac cells.

The researchers examined 3 heart diseases, each of them with their own processes. Later, they studied the interaction between changes in non-coding DNA and other types of cells. They have thus identified a correlation also with apparently unconnected genes, but linked to the regulation of cholesterol.

Source: elifesciences.org

Dreams always have a logic of their own. Yet in pregnancy they seem to be even more bizarre and disturbing. The phenomenon seems all but isolated and could have a solid scientific basis. He examined them more than one study, making surprising discoveries about how dreams work during pregnancy.

The REM phase takes up about 25% of the sleep time and returns several times during the night. It is the moment when one dreams and the brain puts order among the experiences lived during the day. When you wake up during the REM phase, it is easier to remember that dreams were also being made in a clear way.

Disturbed sleep is one of the most common ailments in pregnancy. One of the causes lies in the high levels of progesterone, to which are added discomforts related to the weight of the baby bump and to stress. Since you wake up much more at night, it is also easier to wake up during the REM phase. This explains at least in part why pregnant women remember dreams made more easily and better.

Expectant women also complain of a greater frequency of bad dreams, many of them with childbirth. A study published in the journal BMC Pregnancy and Childbirth analyzed the questionnaires of 406 pregnant women aged 17 to 44. Women reported about twice as many nightmares than non-pregnant women, often related to the baby they wore.

The cause is above all psychological. Gestation is a period of high stress, which often results in an increase in bad dreams.

Source: livescience.com