Aurora magazine

According to a 2015 survey, around 52% of men of reproductive age have used cannabis at least once in their lifetime. A research team from Duke University has analyzed the possible effects on reproductive abilities. In fact, it seems that the substance can alter the DNA of spermatozoa.

Prenatal use of cannabis hurts both mom and unborn baby, as it reduces birth weight and impairs the development of the immune system. According to the scientists, paternal use could also have negative effects on offspring. Still, studies on this are still few: most of the teams focus on mothers and neglect the role of fathers in fetal development. This is despite studies showing the effects of phthalates and pesticides on the epigenome of spermatozoa.

The study authors analyzed the spermatozoa of some male rats exposed to THC. The subjects showed a reduction in sperm concentration, accompanied by changes in DNA methylation. Later, they analyzed the sperm of men who had used cannabis: there were the same problems. Further analyzes on human samples showed 17 genetic areas involved in methylation. One of these is the DLGAP2 gene, which codes for a protein essential in neuronal and synapse development.

The alteration could cause anomalies in the connection between the synapses, leading to the development of schizophrenia and autism.

Source: tandfonline.com

Researchers from the Walter and Eliza Hall Institute have identified the origins of a genetic mutation linked to epilepsy. Thanks to genetic sequencing technologies, they studied the anomaly in the samples, following their history backwards. In this way, they discovered new information on benign familial adult myoclonic epilepsy (FAME), a rare form of epilepsy.

The genetic mutation studied is caused by repeated expansion, a form of anomaly typical of neurological diseases. Among these are Huntington's disease, ataxia, autism and epilepsy, in fact. According to the author of the study, this discovery could facilitate early diagnosis of the disease. For over twenty years, researchers from all over the world have been searching for genetic mutations that cause HUNGER.

In the past year, the study authors have discovered the repeated expansion in question and have discovered that it is linked to the disease. It has been a long way, however: identifying mutations of this type is always difficult. Scientists developed a tool called exSTRa, which sifts the entire genome in search of repeated expansions. Thanks to the new software, they identified the anomaly and reconstructed the genealogical tree. This will allow them to study the development of the disease, thus facilitating the search for new treatments.

Source: wehi.edu.au

Infants exposed to prenatal opioids should be identified as early as possible. This allows in fact to prevent at least part of the problems they will encounter, providing them with better treatments. This is what researchers at Marshall University say, in collaboration with Marshall Health, Cabell Huntington Hospital and the Centers for Disease Control and Prevention. Researchers focused on the combined effects of opioids and gabapentin.

The latter is a drug used to relieve pain caused by nerves and epilepsy. It is also used to treat opioid addiction, but many people use it poorly. This also occurs among pregnant women, with everything that follows for children. Children exposed to opioids in the prenatal phase often experience real withdrawal symptoms. However, the two substances make the symptoms atypical: uncontrolled eye movements; shots in arms and legs; lingual thrusts; involuntary muscle contractions. All this makes it much more difficult to identify the problem in time and, consequently, to deal with it immediately in the necessary ways.

The researchers then analyzed the benefits of total toxicological screening. The questionnaires completed by the mothers are almost always partial. Standard neonatal tests, on the other hand, focus only on certain substances and neglect all others. Under these conditions, it can take up to 20 days before the start of the treatments, which include an hospitalization of 58 days on average. With total toxicological screening, however, only 14 pass and the infants remain in the hospital about 48 days.

Source: jcesom.marshall.edu

Researchers from the University of Barcelona have identified a molecular mechanism involved in the regulation of cholesterol in cells. This is a fundamental process for the proper functioning of cells, which can help against diseases that cause lipid accumulation. For example, dia is present in Niemann-Pick disease type C.

The study was led by Carles Enrich and Carles Rentero, who relied on the CRISPR-Cas9 genetic editing technique. Cholesterol serves to organize the membranes and modulates some of the fundamental functions of the cells. To regulate cholesterol, cells have developed molecular mechanisms that we understand only in part. Unraveling how they work could help us find new treatments, so as to avoid the harmful consequences of cholesterol and other lipid accumulations.

Diseases such as Niemann-Pick are in fact caused by excess lipids inside the cells, which cause alterations of the nervous system and internal organs. Niemann-Pick is caused by an alteration of the NPC1 gene. To study the related mechanisms, researchers used genetic editing to block a molecule - AnxA6 - in diseased cells. The block resulted in a release of excess cholesterol, demonstrating the role of the protein in the regulation of cholesterol and lipids.

The study shows that the release of cholesterol is linked to an increase in membrane contact sites. According to the authors, in the cells of sick patients there are too few of these sites. Silencing AnxA6, on the other hand, causes an increase in the same which reduces the effects of the anomaly in NPC1.

Source: medicalxpress.com