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  • Key words Polymyositis  (1)
  • dentatorubral-pallidoluysian atrophy (DRPLA)  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 100 (2000), S. 521-527 
    ISSN: 1432-0533
    Keywords: Key words Polymyositis ; Lymphotoxin ; Perforin ; Fas ; ligand
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Polymyositis (PM) is a cell-mediated autoimmune disease. Perforin (PF), Fas ligand (FasL) and TNF-α are considered to be important factors in cytotoxic T lymphocyte-mediated cell injury, and several studies have established a role of lymphotoxin (LT) in T helper type 1 (Th1)-induced cell-mediated autoimmune diseases. In the present study, to determine how LT, PF and FasL are involved in the pathogenesis of PM, we used immunohistochemical staining (IHC), reverse transcription polymerase chain reaction (RT-PCR), and in situ hybridization (ISH) on muscle specimens from patients with PM, amyotrophic lateral sclerosis (ALS), myotonic dystrophy (MyD) and controls (NC). There were many mononuclear cells (MNCs) immunoreactive for LT and some for PF and FasL within the fasciculus in PM muscles. On the other hand, only few or no LT-, PF- and FasL-positive cells were detected in MyD, ALS and NC muscles. The results of mRNA expression of these three molecules with RT-PCR were consistent with those using IHC methods. The number of MNCs positive for LT with ISH was far higher in PM compared to MyD, ALS and NC (P 〈 0.05 or 0.01). The MNCs located in the connective tissue or in the vicinity of necrotizing or non-necrotizing muscles were mainly LT mRNA and CD4 positive, while MNCs invading the non-necrotic fibers were mainly LT mRNA and CD8 positive. Our results indicated that the expression of LT was up-regulated in PM, and LT plays an important role in muscle injury and orchestrating the inflammatory reaction in PM.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1573-6903
    Keywords: Machado-Joseph disease (MJD) ; dentatorubral-pallidoluysian atrophy (DRPLA) ; X-linked spinal and bulbar muscular atrophy (SBMA) ; trinucleotide repeat ; mRNA ; somatic mosaicism ; gene expression
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The CAG trinucleotide repeats in mRNAs for the responsible genes of Machado-Joseph disease (MJD), dentatorubral-pallidoluysian atrophy (DRPLA), and X-linked spinal and bulbal muscular atrophy (SBMA) were examined in various neural and nonneural tissues of affected individuals. The tissue-specific variation of expanded CAG repeat alleles were apparent for mRNAs of all three genes. The expanded CAG repeats of the mRNA were shorter in the cerebellum than in other regions of the central nervous system in DRPLA and MJD, but not in SBMA, and were longer in the liver and colon in MJD. Transcripts of the responsible genes with expanded CAG repeats were detected in all tissues studied, and the tissue-specific variation in the CAG repeat size of the mRNA did not correlate with the tissue-specific severity of pathological involvement in these diseases.
    Type of Medium: Electronic Resource
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