Genetics

This post covers Ladakis and colleagues' 2024 study in Neurology: Neuroimmunology & Neuroinflammation, the first metabolomic profiling of MS brain lesions, built around taking paired neighbouring samples for metabolomics and single-nucleus RNA sequencing at every site. It follows the punch-biopsy sampling scheme and the mass spectrometry data handling, the lipid signal separating lesions from control white matter and the changes already present in normal-appearing periplaque tissue, the gradient that makes the lesion core the extreme of the series, the pairing of metabolite pathways to cell populations by enrichment score, the Multiomics Factor Analysis factor that orders samples by pathological stage across both data layers, and the two competing interpretations the authors offer alongside their own five limitations.