A new study , co-led by researchers at the Icahn School of Medicine at Mount Sinai, demonstrates that genes associated with autism risk are largely the same across people of different ancestries. The findings, based on one of the largest genomic studies of Latin American individuals to date, provide strong evidence that the genetic architecture […]
The evolution of the human being has a complex form in which some branches bifurcate and form two different species and some different branches come together again and form individuals with a certain degree of hybridization. The only hominin remaining today is Homo sapiens and the last to disappear was Homo neanderthalensis. Neanderthals, our closest […]
Lipids represent one of the fundamental molecular components within the realm of biological organisms, alongside proteins, carbohydrates, and nucleic acids. The concept of the “lipidome” pertains to the entirety of lipids found within a cell or a collection of cells. This terminology emerged within the context of modern biological sciences, often referred to as “omic […]
Pain is a complex sensation that is mediated by both the peripheral and central nervous systems. In the peripheral nervous system, pain signals are generated by nerve fibers called nociceptors that respond to harmful stimuli. These signals are then transmitted to the brain through the spinal cord, where they are processed and interpreted as pain […]
Occasionally I receive groups of messages from families with autistic members and I know the reason: they have read in the press exciting news about autism, a spectacular treatment, even a miracle cure. Unfortunately, if all that news were true we would have solved autism hundreds of times by now. So let’s start with the […]
mTOR has nothing to do with Norse mythology, it stands for “mammalian target of rapamycin” or “target of rapamycin in mammalian cells”. mTOR is involved in important cellular processes, including growth, proliferation, motility, survival, protein synthesis, transcription and autophagy. The history of rapamycin is so suggestive that I cannot avoid mentioning it: in the 1960s […]
At a synapse, the plasma membrane of the neuron transmitting the information (the presynaptic neuron) is in close proximity to the membrane of the target cell (postsynaptic) and the two are separated by a space known as the synaptic cleft. Both the presynaptic and postsynaptic sites contain extensive assemblies of molecular machinery that link the […]
A significant portion of an organism’s genome is non-coding; that is, it does not carry information to make proteins. Part of the non-coding DNA is transcribed into functional non-coding RNA molecules (e.g., transfer RNA, ribosomal RNA and regulatory RNA). Other functions of non-coding DNA include transcriptional and translational regulation of protein coding sequences, nuclear scaffold […]
Williams syndrome (WS) was first described in 1961 by New Zealand cardiologist John Williams. It is mostly caused by the microdeletion 7q11.23, a loss of a fragment of genetic material on chromosome 7. It is usually a “de novo” mutation, that is, it is not inherited from the parents, but rather arises in that child […]
The cause of autism spectrum disorders (ASD) is not known yet, but it is clear that there is a complex interaction between many genes and many environmental factors. Autism affects not only those aspects that are used for diagnosis: social interaction, communication, and restricted and repetitive behaviors, but also many other factors related to the […]