The human pyruvate dehydrogenase complex: a polymorphic region of the lipoate acetyl transferase (E2) subunit gene

Lucky Hartati Moehario, L. Wang, R. J. Devenish, I. R. Mackay, S. Marzuki

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

Abstract

A major issue in the study of the pathogenesis of primary biliary cirrhosis is whether the E2 subunit of the pyruvate dehydrogenase complex (PDH-E2), the major autoantigen in the disease, exists as a tissue-specific isoform. cDNA clones spanning a segment of the 3′-catalytic region of PDH-E2 (nt 1158-1361) have been isolated from human kidney, placenta and bile epithelium cells. Nucleotide sequence analysis of the clones showed differences consistent with the presence of normal variants of PDH-E2 in the human population. However, the existence of tissue-specific isoforms of PDH-E2 cannot yet be discounted.

Original languageEnglish
Pages (from-to)128-132
Number of pages5
JournalBBA - Molecular Basis of Disease
Volume1097
Issue number2
DOIs
Publication statusPublished - 23 Sep 1991

Keywords

  • Biliary cirrhosis
  • Polymorphism
  • Pyruvate dehydrogenase complex
  • cDNA

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