The human genome, the sequence that represents the DNA of our species, was built with a single individual as a model. This all-in-one standard didn’t include the gene variations that make us different or explain why some people develop certain diseases. Four simultaneous studies from the Human Pangenome Reference Consortium have published a sequence based on 47 individuals, beginning to capture the genetic diversity that defines humans.
One way to prevent the effect of a molecule is to use the cell’s own machinery to break it down. This is what the PROTAC technology does, an acronym for proteolysis targeting chimera, or BacPROTAC, when applied to bacteria. A study led by Austrian and German scientists has demonstrated the effectiveness of this technique in eliminating the tuberculosis pathogen Mycobacterium tuberculosis (Mtb). The finding opens the door to the BacPROTAC strategy as an alternative to the development of drugs against this microorganism.
Patients suffering from neuropathic pain, a chronic condition, have few treatment options and often develop tolerance to existing pain therapy that decreases its effectiveness. Now, a group of scientists from the University of Alabama at Birmingham (UAB) and the Baylor College of Medicine have described the pathophysiological mechanism of initiation, transmission and maintenance of neuropathic pain and identified a potential therapeutic target to treat it efficiently.
Cells of Saccharomyces cerevisiae, a yeast used as a model for human mitosis, age in two ways. Both genomic instability and the decline of mitochondria cause cells to degenerate and die. The choice of one type or another depends on a network of genes that can be adjusted by bioengineering.
The map of the genetic activity of the risk genes that affect the central nervous system (CNS) reveals the molecular signatures associated with the neurological pathologies in this organ. A study by researchers at McGill University in Canada and the Allen Institute for Brain Science in Washington compared 40 brain diseases with this technology and classified them into five groups whose members shared the same transcriptional pattern.
The brain is plastic throughout life, but never more so than from birth to young adulthood. It increases its volume by developing dendrites and axons that connect neurons in to each other, forming new pathways to process the information that it will store. Those connections require maintenance. And if a connection is unsuccessful, better to delete it than to keep it. This is known as synaptic pruning and occurs from childhood to the age of 20. Now, a group of scientists from the University of Cambridge and Fudan University has described a neuropsychopathological (NP) factor that explains why inappropriate pruning in adolescence is related to mental health disorders.
A unique characteristic of Helicobacter pylori could serve to end infections of this gastric bacterium. A group of scientists from the University of Munich have found that this pathogen has a strategic point in its mitochondrial respiratory complex I that could be targeted with inhibitors. “We did not look for respiration inhibitors in the first place,” co-senior author Wolfgang Fischer told BioWorld. “We screened libraries with a reporter assay, looking for something different, a particular protein secretion, the secretion system type (T4SS). Then, we found that a lot of compounds inhibit this process. From these compounds, we came to the point that they are actually respiration inhibitors,” he explained.
Synonymous or silent mutations do not change the sequence of the protein that they encode. With some exceptions, they do not trigger any effect. Last year, however, a study by researchers from the University of Michigan tried to refute this concept after finding that they altered the protein function. But breaking dogmas can have answers. A group of scientists from various institutions has found that this work could have a method error.
The loss of myelin in the cerebral cortex of multiple sclerosis (MS) patients could be recovered if oligodendrocytes, the cells that myelinate neuronal axons, work at a higher rate than they are destroyed. However, a group of scientists from the University of Munich have shown, in cortical MS mice, that this does not occur. The oligodendrocytes do not contribute to remyelination efficiently.
The inhibition of an enzyme associated with neurodegeneration processes reduced the toxic effect of tau, one of the proteins that damage neurons in Alzheimer’s disease (AD). A group of scientists from the University of Helsinki have shown in vitro and in animal models of AD how inhibition of the prolyl endopeptidase (PREP) enzyme reduced tau protein aggregations.