A contemporary perspective on the molecular characteristics of mitochondrial autoantigens and diagnosis in primary biliary cholangitis

Patrick S Leung, Jinjung Choi, Guoxiang Yang, Elena Woo, Thomas P. Kenny, M. Eric Gershwin

Research output: Contribution to journalReview article

15 Scopus citations


ABSTRACT: Primary biliary cholangitis (PBC) is an autoimmune hepatobiliary disease characterized by immune mediated destruction of the intrahepatic small bile ducts and the presence of antimitochondrial antibodies (AMAs). The mitochondrial autoantigens have been identified as the E2 subunits of the 2-oxo-acid dehydrogenase complex, including the E2 subunits of pyruvate dehydrogenase, branched-chain 2-oxo acid dehydrogenase complex, oxoglutarate dehydrogenase complex, E3 binding protein and PDC E1 alpha subunit. The AMA epitope is mapped within the E2 lipoic acid binding domain, which is particularly important for oxidative phosphorylation. In addition, lipoic acid, which serves as a swinging arm to capture electrons, is particularly susceptible to an electrophilic attack and may provide clues to the etiology of PBC. This review emphasizes the molecular characteristics of AMAs, including detection, immunochemistry and the putative role in disease. These data have significance not only specifically for PBC, but generically for autoimmunity.

Original languageEnglish (US)
Pages (from-to)697-705
Number of pages9
JournalExpert Review of Molecular Diagnostics
Issue number6
StatePublished - Jun 2 2016



  • Antimitochondrial antibodies
  • E2 subunit of pyruvate dehydrogenase (PDC-E2)
  • enzyme inhibition assay
  • immunoblotting
  • indirect immunofluorescence
  • Luminex bead assay

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Pathology and Forensic Medicine

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