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Primary Biliary Cirrhosis (PBC)

PBC is an inflammatory chronic destruction of intrahepatic bile ducts. Anti-mitochondrial autoantibodies (AMA) are most commonly used as a diagnostic tool in identifying PBC. Autoimmune thyroid disease, SjS, RA and IBD can be present as part of an immune-mediated association which may precede hepatic disease. Inflammation is primarily driven by T-cells and the disease is generally found to affect woman commonly with elevated levels of total IgM. There is an overlap syndrome between both AIH and PBC allowing a course of treatment similar to AIH-type I to be administered.
Anti-mitochondrial antibodies (AMAs) react against the pyruvate dehydrogenase complex E3BP and PDC E1α. They also target 2-OADC family members PDC-E2, OGDC-E2 and BCOADC-E2.  PDC-E2 is the predominant reactant found in PBC patients. All of these targets play a role in oxidative phosphorylation particularly in the glycolytic pathway. All targets have a highly conserved region over species. ANAs have also been identified in more than 50% of patients with gp210 antibodies of particular diagnostic value. Sp100 and nucleoporin p62 (NUP62) may also be helpful in the diagnosis.


References:
Ishibashi H, Shimoda S and Gershwin ME, Semin Liver Dis. 2005 25(3):337-46
Tanaka et al, Hepatology 2000 32(5):910-5
Gerhswin Me and Mackay IR, Gastroentrol. 1991 100:822-833
Manns MP and Kruger M, Gastroenterol. 1994 106:1676-1697
Miyakawa et al, Hepatology 2001 34(2):243-8
Bogdanos DP, Baum H and Vergani D, Clin. Liver Dis. 2003 7(4):759-77
Mackay IR, N Engl J Med 1958 258(4):185-8 
 
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