Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Dystonia musculorum (dt) is a mutant mouse with hereditary sensory neuropathy. A defective bullous pemphigoid antigen 1 (BPAG1) gene is responsible for this mutation. In the present study, we examined the distribution of neuronal intermediate filament proteins in the central and peripheral processes of the dorsal root ganglia (DRG) in adult dt mice using different approaches. We found that not only BPAG1, but also alpha-internexin was absent in the DRG neurons in adult dt mice. To study the relationship between the absence of alpha-internexin and the progressive neuronal loss in the DRG of dt mice, we further cultured DRG neurons from embryonic dt mutants. Immunocytochemical assay of cultured DRG neurons from dt embryos revealed that alpha-internexin was aggregated in the proximal region of axons and juxtanuclear region of the cytoplasma, yet the other intermediate filament proteins were widely distributed in all processes. The active caspase-3 activity was observed in the dt neuron with massive accumulation of alpha-internexin. From our observations, we suggest that the interaction between BPAG1 and alpha-internexin may be one of the key factors involved in neuronal degeneration, and abnormal accumulation of alpha-internexin may impair the axonal transport and subsequently turns on the cascade of neuronal apoptosis in dt mice.
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PMID:A possible cellular mechanism of neuronal loss in the dorsal root ganglia of Dystonia musculorum (dt) mice. 1735 86

The trigeminal ganglion (TG) and mesencephalic trigeminal tract nucleus (Mes5) were investigated in wild type and dystonia musculorum (dt) mice to study the effect of dystonin deficiency on primary sensory neurons in the trigeminal nervous system. At postnatal day 14, the number of TG neurons was markedly decreased in dt mice when compared to wild type mice (43.1% reduction). In addition, dystonin disruption decreased the number of sensory neurons which bound to isolectin B4, and contained calcitonin gene-related peptide or high-affinity nerve growth factor receptor TrkA. Immunohistochemistry for caspase-3 demonstrated that dystonin deficiency induced excess cell death of TG neurons during the early postnatal period. In contrast, Mes5 neurons were barely affected in dt mice. These data together suggest that dystonin is necessary for survival of nociceptors but not proprioceptors in the trigeminal nervous system.
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PMID:The number of nociceptors in the trigeminal ganglion but not proprioceptors in the mesencephalic trigeminal tract nucleus is reduced in dystonin deficient dystonia musculorum mice. 1861 76

It has been established that the blood content of protein P53 diminishes by 27%, the blood level of sTRAIL increases by 22%, sCD 117 increases by 44% in patients with vegeto-vascular dystonia of the hypertonic type that is accompanied by an increase of the activity of caspases-1 however the activity of caspases-3 and - 8 as well as the blood content of TNF-alpha do not change. Multimodality therapy using glutargin does not influence on the level of the blood plasma TNF-alpha and the activity of caspases-1,-3,-8, normalizes the blood content of sTRAIL and sCD 117, however does not change the plasma concentration of protein P53 which remains lower by 35% than the control indices. In patients with vegeto-vascular dystonia of the hypotonic type the concentration of blood plasma protein P53, TNF-alpha and sTRAIL and the activity of caspases-1,-3,-8 correspond to the control values against a background of an almost twofold increase of the plasma sCD 117 level. The use of erbisol in a complex of therapeutic agents does not change the activity of caspases-l,-3,-8 and does not influence on the blood content of protein p53, TNF-alpha and sTRAIL and diminishes the plasma level of sCD 117 up to control values. A considerable elevation of the blood content of type II apoptotic factors is characteristic of the mixed type of vegeto-vascular dystonia: the level of protein p53 increases 2,4 times, TNF-alpha - 1,9 times, sTRAIL - 2,3 times that is accompanied by an increased activity of caspase-1 - 4,1 times, caspase-3 - 3,3 times, caspase-8 - 3,8 times and an increase of the plasma concentration of sCD 117 - 3,5 times. The use of erbisol and glutargin in multimodality therapy normalizes the plasma concentration of TNF-alpha and diminishes the blood content of protein P53 by 33% and sTRAIL - by 42% which, nevertheless remains higher than the control value by 58% and 36% respectively. The combined effects of glutargin and erbisol in patients of this group are characterized by a decrease (but not normalization) of the blood content of sCD 117 by 47% and more than twofold decrease of the activity of caspases-1,-3 and -8.
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PMID:[Effect of a complex treatment, including glutargin and erbisol on the blood plasma content of protein P53, apoptotic markers of type II, activity of caspases and the level of sCD 117 in patients with autonomic-vascular dystonia]. 1914 21