Enhancing the Performance of a Blood-Based Diagnostic Screening Tool for Dysferlinopathy: Optimising an Immunoassay Across Continents.

ABSTRACT:

Aims

Dysferlin, a 237-kDa protein crucial for muscle function, is deficient in dysferlinopathy, a rare form of muscular dystrophy caused by recessive mutations in the DYSF gene. While genetic analysis is the primary diagnostic approach, protein-based studies remain essential for confirming pathogenicity, particularly for variants of uncertain significance. This study aims to validate an immunohistochemical assay for dysferlin detection in neutrophils from peripheral blood films (PBF) and to evaluate how different storage conditions affect its performance, with particular focus on refining variables that may affect assay reliability and reproducibility.

Methods

We performed a follow-up assessment of a new immunoassay to detect dysferlin expression in neutrophils from PBFs, us

SUBMITTER: D'Este G 

PROVIDER: S-EPMC12851850 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature