Objective: To investigate the pathogenesis of Wilson disease (WD) by detecting its gene products encoded by WD gene (ATP7B).
Methods: Patients diagnosed as WD were analyzed by SDS-PAGE in conjunction with Western blot. Two antibodies were used, which are specially against the sixth copper binding domain (Anti-CuBD) and ATP binding domain (Anti-ABD) of WD protein.
Results: The WD proteins were not expressed in two patients when using anti-CuBD, and poorly expressed when using anti-ABD.
Conclusions: WD is highly heterogeneous in clinical manifestations and inheritance pattern. Two WD patients might simultaneously have exon 5 mutations and exon 8 mutations. The study of WD gene products would probe into the pathogenesis of WD.