We summarize five studies across pathology and laboratory medicine
Georgia Hulme | | News
The cold truth
A genome wide association study for Raynaud’s phenomenon (RP) – a vasospastic disorder that affects the hands and feet – has identified DRA2A and IRX1 as candidate causal genes that predispose individuals to the disease. This finding highlights RP as a disease with complex genetic architecture rather than a cold-induced phenomenon (1).
Many studies have supported a connection between viral infections and an increased risk of neurodegeneration. New research indicates that the neurological effects of COVID-19 could possibly lead to Alzheimer’s disease (AD) or exacerbate existing AD pathologies through inflammatory processes. The paper concludes that the synergistic effect of the interaction of these diseases needs to be explored in more detail (2).
The scores on the doors…
A recent study has found that polygenic risk scores perform poorly in population screening, individual risk prediction, and population risk stratification. The team reviewed 926 polygenic scores for 310 common diseases, finding that five percent of people who do not develop the disease test positive and only 11 percent of individuals who actually develop the disease are identified (3).
Using cryo-electron microscopy, researchers have analyzed the structure of two proteins heavily involved with immune response – C3aR and C5aR1. The images provided detailed insight into the molecular mechanisms of ligand binding, how the receptors change shape when activated, and how they interact with different molecules (4).
Take your vitamins!
Researchers have explored the connection between vitamin B12 and inflammation – and found that individuals with higher serum levels of vitamin B12 had lower concentrations of the inflammatory markers IL-6 and CRP (5). They hope to explore the potential role of B12 in disease management.
- S Hartmann et al., Nat Commun, 14 (2023). PMID: 37828025.
- S Furman et al., J Neurochem [Online ahead of print] (2023). PMID: 37850241.
- A D Hingoran et al., BMJ Med, 2 (2023). PMID: 37859783.
- M K Yadav et al., Cell, 186, 4956 (2023). PMID: 37852260.
- I Domínguez-López et al., J Sci Food Agric [Online ahead of print] (2023). PMID: 37690097.