Aurora magazine

Tay-Sachs's disease is a hereditary genetic disease that affects the central nervous system. It is progressive and falls into lysosomal accumulation. This means that the symptoms are caused by the lack of active enzymes in the lysosomes, vesicles that eliminate cellular waste. Long the waste accumulates and damages the neurons.

There are three forms of Tay-Sachs disease:
• Childish or classical form. It manifests itself around 3-6 months of life. The first symptoms are weakness and tendency to start. Children suffering from it stop developing new skills and lose those acquired. They often suffer from convulsion, they move less and less, lose sight. They usually die within 5 years of age.
• Youthful form. It occurs between 2 and 10 years of age. Children who suffer from it begin to have difficulty walking and convulsive crises. They gradually lose their mental functions, view and muscle strength. This form is also fatal.
• Chronic or adult form. Those who suffer from it have difficulty walking, do not control the movement, and it is difficult to talk. In some cases, psychiatric disorders are manifested.

The disease is transmitted by a mutation of the gene encoding the enzyme esosaminidase A. The deficiency causes the accumulation of GM2 ganglioside in neurons and death. The mutation is recessive, so a couple of carriers have 25% chance of having sick children and 50% transmitting the recessive gene.

For diagnosis, clinical manifestations are analyzed and the activity of the enzyme exosaminidase A is measured. In case of healthy carriers, prenatal diagnosis is also available.

The human population is afflicted by a large number of lethal genetic diseases. Professor Carlos Eduardo Guerra Amorim tried to understand the reason. Why did evolution not eliminate all lethal genetic abnormalities?

In the case of recessive illness, one who inherits only one copy of the defective gene remains healthy. For the disease to manifest, you must inherit the copy of the gene from both parents. Many lethal diseases are transmitted in this way and geneticists do not understand why these mutations continue to exist.

In the study in question, the researchers selected 417 mutations in 32 genes. Mutations are recessive and result in lethal genetic diseases, such as cystic fibrosis and Tay-Sachs disease. The researchers compared how often mutations occur and how often disappear by natural selection. Comparing the result with current sick individuals, they found that mutations should be more common than expected

Why does nature leave potentially lethal mutations in human genetic code? Researchers hypothesize that the benefits associated with these mutations are greater than the disadvantages. In addition, it is more common to transmit only one recessive gene than the lethal couple. There are no reliable answers. Understanding the possible motivations, however, would help identify the mutations better and fight them.

Source: medicalxpress.com

The HPV test, or the papilloma virus, could help locate some of the throat cancer. The tumors whose onset is linked to the virus, in fact, could respond to treatments in a different way. The discovery comes from the University of North Carolina.

Usually, HPV connects to the uterine tumor. In some cases, it also causes oropharyngeal cancers, thus affecting the basis of the tongue and the tonsils. Previous studies have shown that positive HPV patients with throat cancer respond better to the treatment. With a genetic test you could locate and choose lighter treatments.

Often to wipe away HPV tumors - less violent than others - it is enough to have the heaviest and less toxic therapies. Phase II of a clinical trial tested de-intensified treatments on patients with HPV cancers, with excellent results. According to the lead author of the study, Gaorav P. Gupta, liquid biopsy would help to figure out who to use this approach.

The researchers developed a test to detect HPV16 DNA in the blood. They tested it on 47 oropharyngeal cancer patients, identifying the virus in most participants. Those with lower levels of viruses suffer from more severe forms of cancer. Conversely, those with higher levels were also more manageable.
The study suggests that patients with low or zero HPV16 levels have a different genetic profile. Researchers are then looking for new genetic markers that help find the most serious cases.

Source: eurekalert.org

In recent years, it is increasing the rate of couples using fertility therapies. Researchers around the world are trying to figure out whether these treatments are causing cardiovascular complications. Studies made so far have given contradictory answers to the question.

Fertility treatments involve the use of high doses of hormones. It is therefore important to assess their impact on health, especially on the long run. This is also in the light of the ever-advanced age of those who require such therapies.

Two Canadian doctors - Dr. Dayan and Dr. Udell - studied the relationship between cardiovascular disease and fertility treatments. According to the two, repeated ovarian hyperstimulation cycles increase the risk of thrombosis and affect the mechanisms regulating blood pressure. In addition, the same stress associated with the practice facilitates the onset of cardiovascular disorders.

The Canadian study analyzed data from six other studies. The data concerned 41,910 women with a history of infertility behind and 1,400,202 women without such problems. The researchers analyzed the incidence of cardiac events in the two groups. They noted that women in the first group had a higher rate of stroke and cardiovascular problems.

The results are not final and further comments will be needed, but they raise a problem. According to Dr. Park, there would be no cause and effect relationship between treatments and cardiovascular disease. Rather, the reasons that cause infertility could also facilitate the emergence of such problems.

Source: thecardiologyadvisor.com