title: Somatic mutations in mitochondria: the chicken or the egg?
abstract: Somatic mutations of mitochondrial DNA have been detected in various pathologies such as cancer, neurodegenerative diseases, cardiac disorders and aging in general. Now it has been found that patients with rheumatoid arthritis also have a higher incidence of mitochondrial mutations in synoviocytes and synovial tissue compared with patients with osteoarthritis. Furthermore, it has been shown that these mutations possibly result in changed peptides that are presented by major histocompatibility complex II and thus might be recognized as non-self by the immune system. Further studies will show whether these mutations are actually able to trigger autoimmune inflammation in rheumatoid arthritis or whether they must be considered epiphenomena of cellular damage in chronic inflammation.
authors.affiliation: Center of Experimental Rheumatology, Zürich, Switzerland. caroline.ospelt@usz.ch
authors.forename: Caroline
authors.initials: C
authors.lastname: Ospelt
authors.forename: Steffen
authors.initials: S
authors.lastname: Gay
mesh_terms: D019943:Amino Acid Substitution; D017951:Antigen Presentation; D001172:Arthritis, Rheumatoid / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D001324:Autoantigens / Q000235:genetics* / Q000276:immunology; D001327:Autoimmune Diseases / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D002478:Cells, Cultured / Q000378:metabolism; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D004790:Enzyme Induction; D000939:Epitopes / Q000235:genetics / Q000276:immunology; D005347:Fibroblasts / Q000378:metabolism; D006681:HLA-D Antigens / Q000276:immunology; D006801:Humans; D008957:Models, Genetic; D018448:Models, Immunological; D009154:Mutation; D009245:NADH Dehydrogenase / Q000235:genetics* / Q000276:immunology; D010003:Osteoarthritis / Q000235:genetics / Q000473:pathology; D018384:Oxidative Stress / Q000235:genetics; D017634:Self Tolerance / Q000276:immunology; D013583:Synovial Membrane / Q000473:pathology
chemical_list: D001324:Autoantigens; D004272:DNA, Mitochondrial; D000939:Epitopes; D006681:HLA-D Antigens; D009245:NADH Dehydrogenase; C515075:NADH dehydrogenase subunit 1, human