Autoantibodies to Survival of Motor Neuron (SMN) Complex

作者: Minoru Satoh , Jason Y.F. Chan , Angela Ceribelli , Edward K.L. Chan

DOI: 10.1016/B978-0-444-56378-1.00016-2

关键词: ImmunofluorescenceSMN complexBiologyImmunologyCajal bodySurvival of motor neuronNuclear dotsAutoantibodySpinal muscular atrophysnRNP

摘要: Autoantibodies to survival of motor neuron (SMN) complex immunoprecipitatean unusual set the Sm D-E-F-G proteins with four additional (130, 120, 38, and 33 kDa) but without other components (U1-70k, A, B′/B, C) small nuclear ribonucleoproteins (snRNPs, U1RNP, antigens). In immunofluorescence, all anti-SMN sera showed dots (Cajal body) cytoplasmic staining. Target antigens were identified as SMN (SMN, Gemin2, 3, 4) that plays a critical role in assembly snRNPs. All three patients initially white females polymyositis (PM), which seems interesting since deletion or mutation gene is known cause genetic neuromuscular disease, spinal muscular atrophy. addition, about 25% anti-snRNPs also had coexisting autoantibodies. Coexistence antibodies among anti-snRNPs-positive was associated features scleroderma PM less typical systemic lupus erythematosus.

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