DNA mismatch repair enzymes: genetic defects and autoimmunity.

摘要: DNA mismatch repair (MMR) is one of the several pathways conserved from bacteria to humans. The primary function MMR eliminate base-base insertions and deletions that appear as a consequence polymerase errors at synthesis. genes encoding enzymes (MMREs) are highly throughout evolution. In humans, there two sets MMREs, corresponding homologues bacterial MutLS systems. human MutS consist MSH2, MSH3 MSH6, MutL include MLH1, MLH3, PMS1 PMS2. Since beginning this century, few reports on autoantibodies some MMREs have been reported in autoimmune inflammatory myopathy, cancer hematological disorders. This review charts functional structures their genetic defects associated disorders, autoimmunity including our recent data was first analyze against all seven kinds systemic diseases, idiopathic myopathies.