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)

Nerve growth factor was measured in cultured human skin fibroblasts from controls and from patients with familial dysautonomia and dystonia musculoram deformans. Cells from these sources grown over a range of cell densities contained similar levels of beta-nerve growth factor as measured by radioimmunoassay. Results of bioassay demonstrated that the nerve growth factor from dysautonomic cells was only approximately 10% as active per ng of immunoreactive protein as that from control and dystonic cells. Treatment of fibroblasts with the beta-adrenergic agonist isoproterenol resulted in a 17- to 170-fold rise in the cyclic AMP content of both control and dysautonomic cells in 10 min. The content of immunoreactive beta-nerve growth factor in control fibroblasts increased 50--300% after 3--4 hr of exposure to isoproterenol. At no time, throughout a 7.5 hr period, was there a change in the amount of immunoreactive beta-nerve growth factor in the dysautonomic cells. These studies suggest that the molecular basis of the genetic defect in familial dysautonomia may lie in processing of the precursor or in the structure of the biologically active beta subunit of nerve growth factor.
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PMID:Altered nerve growth factor in fibroblasts from patients with familial dysautonomia. 624 81

The activity of nerve growth factor (NGF) in the salivary glands and in the sciatic nerve was compared between normal mice and mice affected by either of three neurological mutations by the use of a biological assay. No evidence was obtained for defects in amount or activity of NGF associated with the sprawling or splotch mutations. A reduction in the NGF content was found in salivary glands and sciatic nerve in homozygous dystonia musculorum mice. It is pointed out that the low amounts of NGF in dtJ/dtJ mice is likely to be a consequence of the general disturbances in development seen in this mutant rather than the specific cause for the neurological disorder.
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PMID:Nerve growth factor in three neurologically deficient mouse mutants. 649 18

The Steel-Richardson-Olszewski syndrome (progressive supranuclear palsy: PSP) was described over a quarter of a century age. Although the full expressed form is very typical, it is overlooked due to unusual ways without axial dystonia and opthalmic signs, with akinesia and dysequilibrium. The many reports of PSP suggested that the abnormalities of it were vaster than Parkinson's disease. The abnormalities of neurotransmitters or neuromodulators were found not only dopamine system but also serotonin and acetylcholine system. On the basis of them, the various trials of neurotransmitter replacement were done without very successful results so far. Transplantation and nerve growth factor are also tried to treat PSP now.
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PMID:[Steele-Richardson-Olszewski syndrome]. 790 88