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

Benign familial familial myoclonic epilepsy is an inherited form of epilepsy. Unlike other forms, it causes neither early dementia nor cerebellar ataxia. However, it manifests itself with cortical tremors in the hands and occasional seizures.

The first symptoms appear between 11 and 50 years of life; in most cases, it occurs for 20 years. At the beginning there is a short tremor in the hands, characterized by contractions that worsen in stressful conditions. As the person ages, the tremors become more severe. In rare cases, tonic-clonic seizures also occur, concentrated mainly around the age of 30. Again, stress exacerbates the symptoms. Familial myoclonic epilepsy is autosomal dominant.

The researchers identified four possible chromosomal loci that could be related to its appearance. The different loci appear to be linked to the patient's ethnic group and would also influence the symptoms. For now, the diagnosis is mainly based on clinical and electrophysiological analyzes: the electroencephalogram is used to identify anomalies in the traces.

Despite efforts, providing an accurate diagnosis is often difficult. Most sick people receive the wrong diagnosis of progressive myoclonic epilepsy, which instead leads to dementia and ataxia. Genetic counseling is possible if a family member has already received a diagnosis. To date there is no definitive treatment: beta-blockers are not very effective, while antiepileptics give some benefit. On the other hand, life expectancy remains unchanged.

Source: orpha.net

The selection of the most motile spermatozoa is now a must in assisted fertilization. In this way sperm samples are "cleaned" of all slow, diseased, damaged spermatozoa. This increases the chances that IVF will have a happy outcome. However, scientists are still uncertain as to what factors influence sperm quality.

A team of biologists from the Technical University of Dresden has analyzed different types of bovine spermatozoa. He assessed its metabolism, motility and tail length, looking for connections. The data revealed a connection between the rate of metabolism and the movements of the flagellum. The faster the cell's metabolism, the better it moves in the flow. However, the correlation is not so immediate.

Veronika Magdanz explained the actual weight of the results. It is not simply a matter of looking for the sperm that metabolizes the most. Selected cells also have lower energy stores, as they consume more and faster. Certain metabolic pathways can therefore have negative consequences on the health of cells, damaging their integrity. For example, one of these pathways produces dangerous free radicals that accelerate the deterioration of spermatozoa.

The results of the study explain why select sperm based on how fast they move. It will be possible to apply them both to humans and to farm animals, albeit with a few more insights.

Source: tu-dresden.de