Aurora magazine

Fabry disease is an inherited genetic disease that affects the glycosphingolipid metabolism. The classical form is characterized by the absence of the enzyme alpha-galactosidase A and mainly affects males. It is in fact linked to an anomaly of the GLA gene, present in the X chromosome. It is estimated that the disease affects about 1-5 people per 100,000. Nevertheless, there is reason to believe that the real prevalence is much higher.

The first symptoms appear between 4 and 10 years and are acute pain accompanied by burning and tingling. Going forward, neurological, cutaneous, renal, cardiovascular and cerebrovascular symptoms are added. Fabry sufferers suffer from transient stroke and ischemic attacks. Furthermore, it is common for renal functions to deteriorate and so are cardiac functions. This happens due to the accumulation of sphingolipid sugars, caused by the deficiency of the enzyme alpha-galactosidase A.

Diagnosis of Fabry disease occurs through clinical observation and measurement of enzyme levels. Often the method is not conclusive and genetic analysis is necessary. In the event that one of the two parents is a healthy carrier, prenatal diagnosis is available for male fetuses. A dosage of the enzymatic activity is carried out and, if necessary, it is passed to genetic counseling.

Traditional treatments involve the use of analgesics to control pain and anti-arrhythmic drugs. In severe cases, it is necessary to intervene with renal transplantation and dialysis. Although there is no resolution therapy, the treatments available today are essential to ensure patient survival. Without them, the subjects incur a deterioration in the quality of life and have less chance of survival.

Source: orpha.net

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

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

Sickle cell anemia is an inherited genetic disease that affects red blood cells. The cells of those who suffer are in the shape of a crescent and are rigid, tending to aggregate. This makes it more difficult for them to move through the blood vessels and slows blood flow. In some cases, the modified red blood cells come to block circulation.

One of the major risks related to sickle cell anemia is ischemia. Because of the mutated red blood cells, the tissues do not receive enough blood and the cells die. Furthermore, the blood cells are more fragile than normal and this leads to a severe form of anemia.

The cause of sickle cell anemia is a mutation in the gene that regulates the production of hemoglobin. Protein is essential for the proper functioning of red blood cells and is what makes oxygen transport possible. In order for the disease to manifest itself, the genetic anomaly must be inherited from both parents. Otherwise, you are only healthy carriers.

Sickle cell anemia usually occurs around the fourth month of life. Among the symptoms there are:

• Anemia. Sick red blood cells die in 10-20 days instead of 120 days. This causes a chronic cell deficiency, which in turn causes weakness, fatigue, visual difficulties, pallor.
• Pain. People suffering from sickle cell anemia experience sudden painful crises, which can be longer or shorter. The aggregates of diseased red blood cells cause them, which hinder the passage of blood. Pain affects chest, abdomen, joints.
• Extremities of swollen limbs.
• Infections. The spleen is damaged by the diseased blood cells and fails to perform its functions within the immune system
• Growth delay.
• Poor eyesight.

Source: humanitas.it