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Aurora magazine

The blog about the prenatal genetic of latest generation

Potential mechanism for HPV-induced skin cancer uncovered

A German study has identified the mechanism behind papilloma virus (HPV) skin cancer. The key lies in a particular molecular pathway, which makes people with more vomiting (EV) more vulnerable epidermodysplasia.

The beta-beta or beta-HPV virus papilloma is also able to infect skin cells. It therefore increases the risk not only of uterine cancer, but also of skin cancer. To date, the virus's action was not understood. Previous research had suggested a role of the protein called E6, present in the virus. However, the molecular mechanism behind the action of E6 was unclear.

Saarland University researchers focused on HPV on patients with verdure-like epidermodysplasia, a rare genetic disorder. The risk is much more present in these subjects. They have analyzed samples of some skin lesions of patients. Some were positive to beta-papillomas.

Positive HPV lesions showed much lower levels than the average of microRNA-203. The latter regulates the growth of skin cells and their differentiation. The lesions also had higher levels of p63, a protein regulated by the microRNA-203 and associated with the development of tumors.

Laboratory experiments revealed a molecular bond between microRNA-203 and the effects of papilloma virus. The beta-HPV protein E6 suppresses the expression of C / EBP, key protein against skin cancers. The C / EBP rules microRNA-203. Patients with verrucal epidermodysplasia affected by the virus showed very low levels of C / EBP as well as microRNA-203.

Discovery suggests that papilloma interferes with the mechanisms that block the development of skin cancers. Mechanisms that are already weak in subjects with genetic disease.

Source: plos.org

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Prenatal diagnosis of Duchenne muscular dystrophy begins before conception

A Polish study analyzes how to optimize prenatal diagnosis of Duchenne muscle dystrophy (DMD) and Becker (BMD). According to the researchers, it is crucial to strengthen the controls even before conception. They therefore propose genetic tests that determine the risk of the woman transmitting the disease to the offspring.

The study has an explanatory title: "Prenatal diagnosis of Duchenne and Becker's muscular dystrophy: the underestimated problem of secondary prevention of monogenic diseases". In short, how to identify the subjects at risk first helps get an early diagnosis afterwards.

The researchers at the Warsaw's Institute of Psychiatry and Neurology conducted prenatal genetic tests on 169 Polish women. Among these there were 78 likely DMD or BMD carriers and 23 non-carriers, but with sick children. The remaining 68 were at risk but with an uncertain status. Prenatal tests started in January 1992 and ended in June 2012.

52% of participants with a sick child did the genetic test before conception. The next prenatal test on the fetus had in all cases a conclusive outcome that was negative or positive. Among women with an uncertain status, however, only 60% of prenatal tests gave a conclusive result. A preliminary genetic test, therefore, can optimize the next prenatal diagnosis.

Source: musculardystrophynews.com

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Genes makes some people more attractive to mosquitoes

Some people attract mosquitoes more than others. We have always suspected it, but science is looking for a confirmation. An English study aims to identify the genes that make us attractive to insects. If the study was successful, new repellents could be processed. An end is nothing but futile if you think that mosquitoes are endemic to lethal illnesses like malaria.

The study will involve over 200 couples of homozygous and heterozygous twins, identical or unidentified. The researchers will pick up the participants' socks and put them in a mosquito-filled wind tunnel. If some individuals really produce chemicals that attract insects, then the mosquitoes will focus on their socks. It will thus be possible to examine what is different from their sweat and what are the genetic causes.

Previous studies have shown that some visual, olfactory and thermal stimuli attract mosquitoes. Individuals that expel more carbon dioxide, for example, receive more bites. Even taller and more powerful people are under attack by mosquitoes, as are women with the cycle. Nonetheless, little is known about what makes us more or less attractive to insects at the genetic level.

Are there really people with "sweet blood" as some popular beliefs would like? Two years ago, a study of the same team involved 18 pairs of homozygous twins and 19 heterozygous twins. Already then scientists had found that homozygous twins, therefore with the same genetic heritage, attract the same amount of insects. Moreover, their smells are similar. That means our appetite could have genetic causes.

If we identified the genes that make our smell interesting for insects, it would be easier to find a solution. It would in any case be a long work, but it could lead to pharmacological treatments that make us insect repellent. Such drugs would be an inestimable weapon against mosquito-like diseases, such as zika and malaria.

Source: scientificamerican.com

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Behavior disorders: symptoms and causes

Behavioral disorders include a number of attitudes that violate the norms of social life. Children who are affected have a difficult behavior to manage, for parents and educators. Where, however, does the poor education end and the actual disturbance begins?

According to statistics, 6-16% of males under the age of 18 and 2-9% of females suffers from behavioral disorders. The symptoms range from mild to very severe and involve systematic detachment of the child from social norms. Whilst they are scolded and educated, children with these disorders maintain a repetitive and persistent behavior.

The child or teenager suffering from behavioral disorders has manifested at least three of these behaviors over the past 12 months.

  • Aggressive behavior. The child looks for physical clash and is cruel with animals and people.
  • Vandal acts. The baby does not hurt people but is aggressive with the objects. It damages the properties of others and public ones.
  • Thefts and scams. The child mentally systematically does not keep promises and let go of small scams. 
  • Violation of legal and moral norms. The child jumps into school and growing alcohol abuse and drugs.

At least one of these must have been evident in the last 6 months, causing discomfort to the subject and others. However, the diagnosis is difficult, as the disorder often occurs along with other problems. Behavioral disorders are associated with 73% of cases of learning disorder and depression. This makes it more difficult to have a clear picture of the situation.

Behavioral disorders often have an environmental source: poor education, difficult family situation, poor socialization. In some cases, however, they are caused by neuropsychological dysfunctions. Many children with early forms of disorder have parents with their own psychopathological disturbances. In these cases, at least one parent suffers from mood disorders and schizophrenia, suggesting a genetic predisposition.

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