molecular biology

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive loss of motor neurons. An international team has discovered evidence that ALS may have an autoimmune component, meaning that the immune system mistakenly attacks healthy cells, a hypothesis that had been considered by the scientific community. The study shows that inflammatory immune cells—called CD4+ T cells—attack certain proteins that are part of the nervous system in people with ALS. ‘These findings highlight the potential of therapeutic strategies aimed at improving regulatory T cells,’ the authors note in the research, published in Nature.

A team has managed to visualise and quantify the protein aggregates believed to trigger Parkinson's disease. This is the first time they have been directly visualised. These small aggregates – alpha-synuclein oligomers – were observed in post mortem brain tissue from people with the disease using a new microscopy technique, as explained by the authors in Nature Biomedical Engineering.

Most rare diseases are caused by mutations in DNA, but the same gene can mutate in different ways, which complicates treatment. Now, a team from the CRG in Barcelona has shown that an already approved drug is capable of stabilising almost all mutated versions of a human protein—specifically, the vasopressin V2 receptor, which is linked to a rare disease called nephrogenic diabetes insipidus. According to the researchers, who published their findings in Nature Structural & Molecular Biology, the study is the first proof of concept demonstrating that a drug can act as a ‘near-universal’ treatment, which could accelerate the development of therapies.

The research article A bacterium that can grow by using arsenic instead of phosphorus was one of the big science stories because it discussed the possibility of arsenic-based life. However, it has been the subject of criticism until now. After nearly 15 years of debate and failed attempts by other groups to replicate the findings, Science has now decided to retract the article, despite finding no evidence of fraud or misconduct on the part of the authors, who disagree with the decision.

A team from Sweden has analysed post mortem brain samples from people aged between 0 and 78 using various techniques and found that, although it varies between individuals, new neurons continue to form in the hippocampus with no apparent age limit. Although previous studies had reached similar conclusions, controversy remains about these results. According to the authors, the new work ‘provides an important piece of the puzzle in understanding how the human brain works and changes throughout life.’ The results are published in the journal Science.

A team from the Centre for Genomic Regulation (CRG) and Pompeu Fabra University (UPF) in Barcelona has developed an artificial intelligence tool capable of designing regulatory sequences for genes that do not exist in nature. When introduced into cells, these enhancers can increase or decrease gene activity in a specific way depending on the type of cell targeted. According to the authors, ‘the potential applications are enormous. It's like writing software, but for biology.’ The results are published in the journal Cell.

Discovered years ago, PINK1 is a protein directly linked to Parkinson's disease, but it was not known what it looks like, how it binds to the surface of damaged mitochondria or how it is activated. A study published this week in Science has for the first time determined the structure of this protein. The authors suggest that this new information could help in finding new treatments.

A study led by CNIO and CNIC researchers has identified a new mechanism in mice by which brown fat can be activated and consume energy to be released as heat. The process depends on a protein called MCJ which, according to the researchers, is “a promising target for treating obesity”. The results are published in the journal Nature Communications. 

Most cases of autism have no known cause. Now, a study led at IRB Barcelona has discovered a mechanism that could explain a good part of these situations. The loss of a few amino acids in a crucial protein would affect the activity of hundreds of genes and the development of neurons. To explain the study, which is published in the journal Nature and which could open the door to future treatments, the Science Media Centre Spain organized an informative session with Raúl Méndez and Xavier Salvatella, the two scientists who have led the research. 

The Human Cell Atlas, an international research consortium, publishes biological data from different cell types in the human body in a series of articles in Nature and other journals in its family. One of the articles integrates single-cell RNA sequencing datasets from the gastrointestinal tract of healthy people and others with different diseases. It describes inflammation-induced changes in stem cells that alter mucosal tissue architecture and promote increased inflammation, a concept that can be applied to other tissues and diseases.