Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P01889 (ankylosing spondylitis)
 5,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 41-year-old man presented with vertigo and gait disturbance. He gave a 10-year history of definite ankylosing spondylitis with low back pain, limitation of spinal mobility, decreased chest expansion and radiological evidence of bilateral sacroiliitis. The vertigo attacks started 3 years before and he had insidious evolution of bilateral leg weakness, increased muscle tension and walking disability during the past 2 years. The HLA haplotypes of the patient were A2, A33, B14, B49, Bw4, Bw6, Cw7 and he was HLA-B27 negative. The axial and sagittal cranial magnetic resonance imaging (MRI) showed multiple foci of increased signal intensity in the periventricular white matter and cerebellar hemispheres, suggesting a demyelinating disease process. The MRI of the spine showed centromedullar high intensity lesions at C7, Th7-8, Th9-10 levels. The diagnosis was definite MS (primary progressive MS) as the patient had insidious neurological progression, CSF evidence of inthrathecal production of oligoclonal bands, conduction defects at VEP, multiple brain and additional spinal cord lesions on MRI and continued progression for more than 1 year.
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PMID:Ankylosing spondylitis and multiple sclerosis in an HLA-B27 negative patient. 1574 8

To investigate the effects of TNF-alpha -308, -238 promoter polymorphisms on TNF-alpha transcription in B27 positive Chinese patients with ankylosing spondylitis (AS). The possible relationship between polymorphisms, MHC antigens, and quantitative TNF-alpha mRNA expression were evaluated. Single nucleotide polymorphisms (SNPS) of TNF-alpha -308 and -238 were performed by PCR-amplification refractory mutation system method (PCR-ARMS) in sixty-seven B27-positive AS patients and 60 HLA-B27 positive healthy controls in Chinese. Quantitative measurement of TNF-alpha mRNA in peripheral blood mononuclear cells was performed with real time RT-PCR. The polymorphisms were correlated to quantitative TNF-alpha mRNA, and MHC antigens (determined by SSP method) in AS patients. The prevalence rate of both -308G/A and -238G/A TNF-alpha promoter polymorphisms in patients were not significantly different from those in normal subjects. However, a significant high LPS-stimulated TNF-alpha mRNA expression was found in peripheral blood mononuclear cells from patients with promoter -308G/A polymorphism (TNF2) as compared to those in -308G/G genotype (TNF1). Furthermore, -308G/A polymorphism in patients was found to be tightly associated with distinct haplotypes of A33/B58/Cw10 [12 out of 14 -308G/A patients (85.7%) versus none in 53 -308G/G patients], independent of B27 antigen. HLA-A33-B58-Cw10 haplotypes associated TNF-alpha promoter -308G/A polymorphism might play an important role in disease pathogenesis of AS in Chinese population, partially related to a driving force of a higher TNF-alpha production. It confirms once again the importance and complexity of MHC related molecules in disease pathogenesis of AS.
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PMID:Higher LPS-stimulated TNF-alpha mRNA levels in peripheral blood mononuclear cells from Chinese ankylosing spondylitis patients with -308G/A polymorphism in promoter region of tumor necrosis factor: association with distinct A33/B58/Cw10 haplotypes. 1871 20