Aurora magazine

Familial dyskinesia with facial myokymia - or ADCY5-related dyskinesia - is a rare genetic disorder. It usually occurs in childhood, but there have also been cases of onset in late adolescence. The most characteristic symptoms are the uncontrolled paroxysmal movements of limbs and neck, which often also involve the face.

The severity of the disease varies based on the frequency and violence of the seizures. In the worst cases, it makes it impossible to walk and even talk, so much so that many subjects show delays in motor development. It seems that stress and anxiety contribute to worsening the severity of symptoms. On the other hand, the extent of dyskinesia tends to stabilize in adulthood.

The diagnosis of ADCY5-relata dyskinesia occurs through clinical observation and genetic tests, aimed at identifying ADCY5 gene abnormalities. The gene is expressed above all in the granular neuronal precursors of the cerebellum; the mutation could cause its overexpression.

The phenomenon could repress the hedgehog pathway of the embryonic neural tube, with all the consequences mentioned above. During the diagnosis, it is common for dyskinesia and epilepsy to be confused. However, the disease in question does not respond to epileptic drugs; usually it takes very little to exclude epilepsy with reasonable safety.

Uncontrolled facial movements can raise some doubts about multiple sclerosis and hereditary benign chorea. In these cases, the genetic test is used to identify the possible mutation of ADCY5. For the moment, there are no resolutive therapies against familial dyskinesia with facial myochemistry.

Source: orpha.net

A team from Temple University has developed a possible treatment for HIV, for now only tested on animals. The researchers combined antiretrovirals and Crispr-Cas9, in order to heal the cells already attacked by the virus.

The combination appears to be more effective than genetic editing alone and offers hopes for a future human trial. To date, the only therapy available against HIV is antiretroviral, which however does not eliminate the virus.

The treatment is limited to blocking the expansion of the infection and must be taken for life. Unfortunately, the virus integrates its DNA into the cells of the immune system, hiding from antiretroviral drugs. If treatment is interrupted, the infection resumes and can turn into AIDS. Crispr-Cas9 removes the DNA of the virus from the cells of the immune system, preventing it from reproducing.

The technique proved to be quite effective in mice already alone, even though it failed to eliminate all the infected cells. Hence the need to enhance it with the latest generation antiretroviral therapy, the "long-acting slow effective release antiretroviral therapy" (called Laser Art). Laser Art therapy slows down the dissolution of the drug in the body, so as to reduce the frequency of administration.

The drug is in fact contained in nanocrystals, which facilitate the distribution of the drug even in the most hidden points. This allows many more infected cells to be blocked, then eliminated with Crispr-Cas9. With this approach, the researchers managed to heal about a third of the guinea pigs.

Source: wired.it

Small differences in gene expression during development could increase or reduce the risk of getting sick. This was revealed by a study by the Universities of Chicago and Johns Hopkins.

The researchers analyzed stem cell RNA as they turned into heart cells. During the process, they identified hundreds of gene expressions in different sections of DNA. Expressions changed from individual to individual, determining part of the functions of the genes involved. According to the researchers, this could influence the likelihood of a certain disease manifesting itself.

The changes in question occur in the midst of development, often invisible in adult cells. Hence the need to observe stem cells during development. For this purpose, the researchers took RNA samples from the cells once a day for 16 days. In this way they were able to measure gene expression from day to day, so as to identify even the most subtle changes.

The RNA could explain why the risk of getting sick changes from individual to individual, even when there are the same genetic variants. Diseases such as diabetes, for example, are caused by the combination of genes and lifestyle. Lifestyle that involves minute changes in the way genes express themselves. This may one day help to more accurately identify those most at risk. For the moment, however, the whole process is too expensive.

Source: uchospitals.edu

Smog could adversely affect female fertility. The discovery comes from the Universities of Modena and Reggio Emilia. The researchers measured the levels of antimullerian hormone in 1318 Modenese women. From what has emerged, the more polluted the air, the lower the levels and the lower the chances of conceiving.

The antimullerian hormone is released from the cells of the ovary and is linked to the number of available oocytes. The researchers compared the levels of the hormone with those of fine particles in the air. At the same age, women exposed to greater quantities of pollutants were less fertile than those less exposed. It is therefore likely that air quality will affect your chances of getting pregnant. Dr. Antonio La Marca presented the results of the study at the European Society of Human Reproduction and Embryology Meeting, held this year in Vienna. According to the researcher, living in a highly polluted area is associated with a marked reduction in reproductive capacity.

Smog could accelerate the loss of eggs useful for reproduction even two or three times. The study offers interesting ideas, but needs confirmation. Furthermore, the researchers did not measure women's individual exposure: they were based on general data. However, the discovery could explain some cases of unexplained female infertility and early menopause. This although it does not offer immediate solutions.

Source: newscientist.com