Institute of Biomedicine of Valencia (IBV-CSIC)

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.

Researchers at Harvard Medical School have published new findings in Nature on the role of reduced lithium levels in Alzheimer's disease, based on experiments with mice and analysis of brain tissue and blood samples from humans. The team claims to have achieved improvements in memory in mouse models with lithium orotate. They caution that they have not proven that lithium is safe or effective in protecting against neurodegeneration in patients, and that their findings must be confirmed in humans through clinical trials.

While some studies have suggested that having a mother with Alzheimer's may increase the risk of developing the disease, a new study reveals that having a father with the disease may be related to a greater spread of tau protein in the brain, which is a sign of the disease. The study, published in Neurology, does not prove that having a father with Alzheimer's causes these brain changes; it only shows an association.

An international team with Spanish participation has analysed the usefulness of a blood biomarker - the p-tau217 protein - for detecting Alzheimer's disease in 1,767 patients. According to the authors, who publish the results in the journal Nature Medicine, the test has detected the disease with high reliability in four hospital cohorts, as well as in a primary care cohort. They add that it is an assay that can be easily implemented in clinical laboratories and is already routinely used in some centres in Spain.

EMA’s human medicines committee has recommended not authorising the marketing of Kisunla (donanemab), a drug intended for the treatment of early-stage Alzheimer's disease. The committee considered that the benefits of this drug were not great enough to outweigh the risk of potentially fatal events. In recent years, several patients have died due to microbleeds in the brain.

Less than four months after the European Medicines Agency recommended in July not to grant marketing authorisation for Leqembi™ (lecanemab) for the treatment of Alzheimer's disease, the EMA's Committee for Medicinal Products for Human Use (CHMP) has reassessed the available evidence to conclude that the benefits outweigh the risks.

The Karolinska Institute has awarded the Nobel Prize in Medicine or Physiology to Victor Ambros and Gary Ruvkun for the discovery of microRNAs, small RNA fragments that do not contain instructions for making proteins but instead participate in the regulation of gene expression. Their role is fundamental in processes such as cell differentiation, and their alteration can influence diseases like cancer.

A family of more than 1,000 members with origins in Colombia has a mutation called "paisa" that leads to the development of Alzheimer's disease. In 2019, an added mutation in the apoE gene called "Christchurch" was described as conferring strong protection to an individual carrying two copies of it. Now, a study has found that 27 family members carry a single copy and that it is also associated with some degree of protection. According to the authors, who publish their findings in the journal NEJM, the discovery could be used to develop new treatments for the disease. 

Genetic forms of Alzheimer's are considered to be those in which certain variants of a gene inevitably lead to the disease over time. Until now, only rare alterations in three genes were considered as such. A group of researchers led by the Hospital de Sant Pau in Barcelona has proposed a new, much more frequent form. After analysing data from more than three thousand donated brains and clinical data from more than ten thousand patients, they found that almost all people who carry two copies of the ApoE4 variant in the ApoE gene, which was previously only considered a risk factor, also end up developing the disease.They publish the results in the journal Nature Medicine.  

The UK Health Security Agency published in its latest report on 25 March the detection of three recombinant forms of omicron, called XE, XD and XF. The WHO mentions them in its 29 March report, noting that the possibility that XE is more transmissible than BA.2 still requires further study.