Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.7.7.6 (RNA polymerase)
 34,946 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Systemic sclerosis (SSc) is thought to be an autoimmune disease, as autoantibodies against a variety of extractable nuclear antigens can be detected in patient sera. Subgrouping patients based on the type of autoantibodies present can be useful in diagnosis and management. Anti-centromere antibodies (ACA) and anti-topoisomerase I antibodies (anti-topo I) are the classic autoantibodies associated with SSc. ACA are associated with limited cutaneous involvement and isolated pulmonary hypertension, whereas anti-topo I are associated with diffuse skin involvement and pulmonary fibrosis. ACA are predictors for a favorable prognosis, while anti-topo I are correlated with a poor prognosis and SSc-related mortality. Additionally, anti-RNA polymerase antibodies (anti-RNAP) are associated with diffuse cutaneous disease and renal involvement. Anti-nucleolar antibodies define multiple subgroups of patients with SSc. Of these, anti-Th/To antibodies (anti-Th/To) and anti-PM-Scl antibodies (anti-PM-Scl) are associated with limited cutaneous SSc (lSSc), whereas anti-U3RNP antibodies (anti-U3RNP) are associated with diffuse cutaneous SSc (dSSc). In addition, anti-Th/To and anti-U3RNP can be predictors for a less favorable prognosis with a higher frequency of organ involvement, such as pulmonary fibrosis, pulmonary hypertension and renal crisis. Other autoantibodies are less frequently reported: anti-Ku antibodies, anti-U1RNP antibodies, anti-human upstream-binding factor, and anti-U11/U12 antibodies. These antibodies are generally less specific to SSc, but also define clinically distinct patient subsets. Thus, characterization of autoantibodies in SSc together with knowledge of disease characteristics intrinsic to distinct patient populations is helpful for assessing the clinical presentation and prognosis of this disease, and for monitoring patients with SSc.
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PMID:Autoantibody profiles in systemic sclerosis: predictive value for clinical evaluation and prognosis. 2017 39

Systemic sclerosis (SSc) shows variable clinical expression among different ethnic groups. Herein, we describe the clinical features, prevalence of organ involvement, and autoantibody profile in Mexican Mestizo SSc patients and we compare them with patients from other ethnic groups.We included 139 SSc patients. They underwent clinical evaluation and were tested for antinuclear antibodies (ANA), anticentromere antibodies (ACA), anti-topoisomerase I, anti-RNA polymerase III, anti-U1 RNP, anti-U3 RNP, anti-U11/U12 RNP, anti-Th/To, anti-PM-Scl, anti-Ku, antinucleosome, anti-double-stranded DNA (dsDNA), anti-Sm, anti-SSA, and anti-SSB antibodies. Female predominance (93.5%) was noted; 56.8% of patients had limited cutaneous SSc; 91% had peripheral vascular involvement; 70% had joint involvement; 27% had musculoskeletal damage; 66% had gastrointestinal involvement; 41% had interstitial lung disease; 32% had pulmonary arterial hypertension (PAH); 11% had cardiac involvement; and in 1.4% renal involvement was observed. Our patients showed lower frequency of renal crisis and higher frequency of PAH than patients from other ethnic groups; also they showed higher frequency of ACA than Japanese and African American patients, higher frequency of anti-topoisomerase I than Caucasian and African American patients, higher frequency of anti-PM-Scl and anti-Ku and lower frequency of anti-RNA Pol III than the other ethnic groups. High frequencies of antinucleosome (41%) and anti-dsDNA (63%) were identified. SSc-specific autoantibody frequencies are different in our patients and in those from other ethnic groups; associations of autoantibodies with clinical manifestations are confirmed in our patients. Ethnicity and the interaction of gene and environmental factors may influence the clinical picture and autoantibody profile in SSc patients.
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PMID:Distinctive autoantibody profile in Mexican Mestizo systemic sclerosis patients. 2187 77

Systemic sclerosis is an autoimmune disease characterized by fibrosis of skin and internal organs, vasculopathy, and dysregulation of immune system. A diagnostically important feature of immunological abnormalities in systemic sclerosis is the presence of circulating antinuclear antibodies, which may be detected in 90-95% of patients with either of the four main laboratory methods: immunofluorescence, enzyme-linked immunosorbent assay, immunodiffusion, and immunoblotting. There are several antinuclear antibodies specific for systemic sclerosis. These include antibodies against topoisomerase (anti-TOPO I), kinetochore proteins (ACA), RNA polymerase enzyme (anti-RNAP III), ribonuclear proteins (anti-U11/U12 RNP, anti-U1 RNP, anti-U3 RNP) and nucleolar antigens (anti-Th/To, anti-NOR 90, anti-Ku, antiRuvBL1/2, and anti-PM/Scl). Autoantibodies specific for systemic sclerosis have been linked to distinct clinical features. Therefore, detecting a particular antibody type is important in predicting a possible organ involvement and prognosis and may have an impact on monitoring and treatment.
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PMID:Antinuclear Antibodies in Systemic Sclerosis: an Update. 3060 49