Urinary Multi-Omics Profiling Reveals Systemic Molecular Alterations in Progressive External Ophthalmoplegia.

ABSTRACT: Advances in next-generation sequencing have significantly improved the molecular diagnosis of mitochondrial diseases (MDs), a group of heterogeneous neurogenetic disorders. However, progress in understanding their pathogenic mechanisms and translating this knowledge into effective therapies remains limited. Elucidating the molecular determinants of phenotypic variability in primary MDs is essential to uncover disease mechanisms and identify novel therapeutic targets. We investigated a cohort of eight adult patients with genetically confirmed Progressive External Ophthalmoplegia (PEO)-an extremely rare mitochondrial disorder-and compared them with eight age- and sex-matched healthy controls. A comprehensive multi-omics approach combining LC-MS/MS-based proteomics, UPLC-MS/MS-based metabolom

SUBMITTER: Cicchinelli M 

PROVIDER: S-EPMC12692649 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature