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 language | English |
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Pages (from-to) | 128-132 |
Number of pages | 5 |
Journal | BBA - Molecular Basis of Disease |
Volume | 1097 |
Issue number | 2 |
DOIs | |
Publication status | Published - 23 Sept 1991 |
Keywords
- Biliary cirrhosis
- Polymorphism
- Pyruvate dehydrogenase complex
- cDNA