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Mixed connective tissue disease: 40 years of history
 
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Online publication date: 2011-09-27
 
 
Reumatologia 2011;49(5):366-371
 
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ABSTRACT
The history of mixed connective tissue disease (MCTD) started 40 years ago as a result of long-term observation of patients with features resembling systemic lupus erythematosus (SLE), scleroderma and poly- or dermatomyositis. A high titre of anti-extractable nuclear antigen antibodies (anti-ENA) in these patients was also revealed. This paper presents formation of views on clinical aspects of MCTD, development of diagnostic methods identifying antigens involved in disease initiation and modern technique appliance in defining pathogenic mechanisms (Table I). Looking at the growing knowledge on MCTD we can follow 40 years of medicine progress.
 
REFERENCES (60)
1.
Reicher E. Choroby kolagenu. Pol Arch Med Wewn 1958; 6: 917-929.  .
 
2.
Cieślak T. Czy prof. Eleonora Reicher wyodrębniła i opisała na kilkanaście lat przed Sharpem zespół Sharpa? Arch Hist Fil Med 1992; 55: 323-326. .
 
3.
Sharp GC. Specific antibody to the extractable nuclear antigen (ENA) in the mixed connective tissue disease syndrome. J Lab Clin Med 1969; 74: 1010-1011. .
 
4.
Sharp GC, Irvin WS, LaRoque RL, et al. Association of autoantibodies to different nuclear antigens with clinical patterns of rheumatic disease and responsiveness to therapy. J Clin Invest 1971; 50: 350-358. .
 
5.
Northway JS, Tan EM. Differentiation of antinuclear antibodies giving speckled staining patterns in immunofluorescence. Clin Immunol Immunopathol 1972; 1: 140-147. .
 
6.
Maddison PJ, Skinner RP, Vlachoyiannopoulos P, et al. Antibodies to nRNP, Sm, Ro(SSA) and La(SSB) detected by ELISA: their specificity and inter-relations in connective tissue disease sera. Clin Exp Immunol 1985; 62: 337-345. .
 
7.
Sharp GC, Irvin WS, Tan EM, et al. Mixed connective tissue disease – an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA). Am J Med 1972; 52: 148-159. .
 
8.
Sullivan WD, Hurst DJ, Harmon CE, et al. A prospective evaluation emphasizing pulmonary involvement in patients with mixed connective tissue disease. Medicine 1984; 63: 92-107. .
 
9.
Burdt MA, Hoffman RW, Deutscher SL, et al. Long-term outcome in mixed connective tissue disease: longitudinal clinical and serologic findings. Arthritis Rheum 1999; 42: 899-909. .
 
10.
Lerner MR, Steitz JA. Antobodies to small nuclear RNAs complexed with proteins are produced by patients with systemic lupus erythematosus. Proc Natl Acad Sci USA 1979; 76: 5495-5499. .
 
11.
Pettersson I, Hinterberger M, Mimori T, et al. The structure of mammalian small nuclear ribonucleoproteins. Identification of multiple protein components reactive with anti-(U1)ribonucleoprotein and anti-Sm autoantibodies. J Biol Chem 1984; 10: 5907-5914. .
 
12.
Lerner MR, Boyle JA, Mount SM, et al. Are snRNPs involved in splicing? Nature 1980; 283: 220-224. .
 
13.
Will CL, Lührmann R. Spliceosome structure and function. Cold Spring Harb Perspect Biol 2011; 3: [e-pub]. .
 
14.
Kastner B, Lührmann R. Electron microscopy of U1 small nuclear ribonucleoprotein particles: shape of the particle and position of the 5’RNA terminus. EMBO J 1989; 8: 277-286. .
 
15.
Kastner B, Kornstädt U, Bach M, et al. Structure of the small nuclear RNP particle U1: identification of the two structural protuberances with RNP-antigens A and 70K. J Cell Biol 1992; 116: 839-849. .
 
16.
Stark H, Dube P, Lührmann R, et al. Arrangement of RNA and proteins in the spliceosomal U1 small nuclear ribonucleoprotein particle. Nature 2001; 409: 539-542. .
 
17.
Pomeranz Krummel DA, Oubridge C, Leung AK, et al. Crystal structure of human spliceosomal U1 snRNP at 5.5 A° resolution. Nature 2009; 458: 475-480. .
 
18.
Hof D, Cheung K, de Rooj DJ et al. Autoantibodies specific for apoptotic U1-70K are superior serological markers for mixed connective tissue disease. Arthritis Res Ther 2005; 7: R 302-R 307. .
 
19.
Hoffman RW, Rettenmaier LJ, Takeda Y, et al. Human autoantibodies against the 70-kd polypeptide of U1 small nuclear RNP are associated with HLRDR4 among connective tissue disease patients. Arthritis Rheum 1990; 33: 666-673. .
 
20.
Kaneoka H, Hsu K-C, Takeda Y, et al. Molecular genetic analysis of HLA-DR and HLA-DQ genes among anti–U1–70-kd autoantibody positive connective tissue disease patients. Arthritis Rheum 1992; 35: 83-94. .
 
21.
Hoffman RW, Sharp GC, Deutscher SL. Analysis of anti-U1 RNA antibodies in patients with connective tissue disease: association with HLA and clinical manifestations of disease. Arthritis Rheum 1995; 38:1837-1844. .
 
22.
Hoffman RW, Sharp GC. Is anti-U1-RNP autoantibody positive connective tissue disease genetically distinct? J Rheumatol 1995; 22: 586-589. .
 
23.
Gendi NS, Welsh KI, van Venrooij WJ, et al. CM. HLA type as a predictor of mixed connective tissue disease differentiation: ten-year clinical and immunogenetic followup of 46 patients. Arthritis Rheum 1995; 38: 259-266. .
 
24.
Smolen JS, Steiner G. Mixed connective tissue disease. To be or not to be? Arthritis Rheum 1998; 41: 768-777. .
 
25.
Ramos PS, Kelly JA, Gray-McGuire C, et al. Familial aggregation and linkage analysis of autoantibody traits in pedigrees multiplex for systemic lupus erythematosus. Genes Immun 2006; 7: 417-432. .
 
26.
Cervino AC, Tsinoremas NF, Hoffman RW. A genome-wide study of lupus: preliminary analysis and data release. Ann N Y Acad Sci 2007; 1110: 131-139. .
 
27.
Greidinger EL, Hoffman RW. Autoantibodies in the pathogenesis of mixed connective tissue disease. Rheum Dis Clin N Am 2005; 31: 437-450. .
 
28.
Hoffman RW, Maldonaldo ME. Immune pathogenesis of mixed connective tissue disease: a short analytical review. Clin Immunol 2008; 128: 8-17. .
 
29.
Greidinger EL, Zang YJ, Jaimes K, et al. A Murine Model of Mixed Connective Tissue Disease Induced With U1 Small Nuclear RNP Autoantigen. Arthritis Rheum 2006; 54: 661-669. .
 
30.
Sharp GC. Diagnostic criteria for classification of MCTD. In: Mixed connective tissue diseases and antinuclear antibodies Kasukawa R, Sharp GC (eds.). Elsevier; Amsterdam 1987; 23-32. .
 
31.
Alarcon-Segovia D, Villareal M. Classification and diagnostic criteria for mixed connective tissue disease. In: Mixed connective tissue diseases and antinuclear antibodies. Kasukawa R, Sharp GC (eds.). Elsevier; Amsterdam 1987; 33-40. .
 
32.
Kasukawa R, Tojo T, Miyawaki S. Preliminary diagnostic criteria for classification of mixed connective tissue disease. In: Mixed connective tissue diseases and antinuclear antibodies, Kasukawa R, Sharp GC (eds.). Elsevier; Amsterdam 1987; 41-47. .
 
33.
Alarcon-Segovia D, Cardiel MH. Comparison between 3 diagnostic criteria for mixed connective tissue disease. J Rheumatol 1989; 16: 328-334. .
 
34.
Kahn MF, Appeboom T. Sydrome de Sharp. In: Les maladies systemiques. Kahn MF, Peltier AP, Meyer O, Piette JC, eds. 3th edition. Flammarion; Paris 1991: 545-556. .
 
35.
Amigues JM, Cantagrel A, Abbal M, et al. comparative study of 4 diagnosis criteria sets for mixed connective tissue disease in patients with anti-RNP antibodies. Autoimmunity Group of the Hospitals of Toulouse. J Rheumatol 1996; 23: 2055-2062. .
 
36.
Lage LV, Caleiro MT, Carvalho JF. Proposed disease activity criteria for mixed connective tissue disease. Lupus 2010; 19: 223-224. .
 
37.
Bellando-Randone S, Cutolo M, Czirjak L, et al. Mixed connective tissue disease, a roundabout to rheumatic diseases? Curr Rheumatol Rev 2009; 5: 133-140. .
 
38.
Singsen BH, Swanson VL, Bernstein BH. A histological evaluation of mixed connective tissue disease in childhood. Am J Med 1980; 68: 710-717. .
 
39.
Habets WJ, de Rooij DJ, Hoer RM, et al. Quantitation of anti-RNP and anti-Sm antibodies In MCTD and SLE patients by immunoblotting. Clin Exp Immunol 1985; 59: 457-465. .
 
40.
Piirainen HI. Patients with arthritis and anti-U1-RNP antibodies: a 10 year follow up. Br J Rheumatol 1990; 29: 345-348. .
 
41.
Vlachoyiannopoulos PG, Guilis A, Tzioufas G, Moutsopoulos HM. Predominance of IgM anti-U1RNP polypeptide A with systemic lupus eryhematosus. Br J Rheumatol 1996; 35: 534-541. .
 
42.
Ramos-Niembro R, Alarcon-Sergovia D, Hernandes OJ. Articular manifestations of mixed connective tissue disease. Arthritis Rheum 1979; 22: 43-51. .
 
43.
Perkins K, Hoffman RW, Bezruczko N. A Rasch analysis for classification of systemic lupus erythematosus and mixed connective tissue disease. J Appl Meas 2008; 9: 136-150. .
 
44.
Tennant A, Conaghan PG. The Rasch measurement model in rheumatology: what is it and why use it? when should it be applied, and what should one look for in a Rasch paper? Arthritis Rheum 2007; 57: 1358-1362. .
 
45.
Chwalińska-Sadowska H, Jedryka-Góral A, Małdykowa H, Rdułtowska H. [Mixed connective tissue disease. Clinico-immunological studies in 12 patients]. Reumatologia 1983; 21: 221-229. .
 
46.
Mazurek K, Kuch J, Lubiszewska B, Serwecińska T. [Variability of disease picture during successive exacerbations in mixed collagen disease]. Wiad Lek 1982; 35: 671-674. .
 
47.
Zimmermann-Górska I, Potocka-Michajluk U, Stepczyńska M, Mickiewicz A. [2 cases of mixed connective tissue disease]. Pol Arch Med Wewn 1979; 61: 75-82. .
 
48.
Plamieniak Z, Głebowska-Halawa H, Miklaszewska M i wsp. [A case of mixed connective tissue disease with involvement of the nervous system]. Pol Tyg Lek 1987; 42: 229-231. .
 
49.
Panaszek B, Małolepszy J, Wrzyszcz M i wsp. [Mixed connective tissue disease in a male patient chronically exposed to toxic chemicals]. Pol Tyg Lek 1993; 48: 430-432. .
 
50.
Prokop J, Zietkiewicz E, Słomski R. [Occurrence of autoantibodies and the clinical course of mixed connective tissue disease, systemic scleroderma, dermatomyositis, polymyositis and Sjögren's syndrome]. Przegl Dermatol 1986; 73: 327-331. .
 
51.
Wilkoszewski E, Małdyk E, Wesołowska H i wsp. [Diagnostic difficulties in a case of systemic connective tissue disease in a 10-year-old boy]. Reumatologia 1971; 9: 399-406. .
 
52.
Wesołowska H, Rostropowicz-Denisiewicz K, Siemieńska-Rywik S i wsp. [Mixed connective tissue disease in children in the light of our observations]. Pediatr Pol 1988; 63: 473-478. .
 
53.
Fiedorczyk M, Rojewska J, Kowal-Bielecka O i wsp. [Interstitial lung disease related to systemic connective tissue diseases]. Przegl Lek 2005; 62: 1471-1474. .
 
54.
Szczepański L. [Mixed connective tissue disease]. Pol Arch Med Wewn 1975; 54: 577-583. .
 
55.
Małdyk E. [Mixed connective tissue disease]. Pol Tyg Lek 1976; 31: 1101-1102. .
 
56.
Zdrojewicz Z, Budzyń-Kozioł E, Puławska J. [Mixed connective tissue disease - etiology, pathogenesis, clinical significance, treatment]. Postepy Hig Med Dosw 1999; 53: 751-766. .
 
57.
Kuch J, Mazurek K, Serwecińska T. [Mixed connective tissue diseases or systemic lupus erythematosus?]. Wiad Lek 1978; 31: 1163-1167. .
 
58.
Chorzelski T, Błaszczyk M, Jabłońska S i wsp. [Diagnosis of the so-called mixed connective tissue disease (MCTD)]. Przegl Dermatol 1985; 72: 407-412. .
 
59.
Chorzelski T, Jablońska S, Jarzabek-Chorzelska M i wsp. [Is mixed connective tissue disease a separate entity?]. Przegl Dermatol 1977; 64: 525-531. .
 
60.
Sharp GC. The origin of mixed connective tissue disease: a stimulus for autoimmune disease research. Lupus 2009; 18: 1031-1032.
 
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