Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.6.1.3 (ATPase)
 65,361 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Structural study of human scoliosis muscles showed significant dystrophic and degenerative changes: desintegration of fibrillar structure and striation; the Zencker necrosis; the replacement of muscular tissue by connective and adipose tissues. The electron microscopic observation revealed disordering of filamental array of the sarcomere (I- and A-discs), the broadening of Z-disc material, the appearance of N-stripes in I-band. At the same time deviations from the norm were observed in contractile proteins: actin and myosin. ATPase activity of myosin decreased by 25--30%; the flow of birefringence of myosin and especially of actin also decreased. Actin from the scoliosis muscles partially or completely lost the ability for polymerization in 0.1 M KC1.
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PMID:[Complex biochemical and structural study of skeletal muscles in scoliosis]. 15 74

The clinical, electromyographic, and histologic characteristics of a 17-year-old girl with reducing body myopathy are described. She is, to our knowledge, the oldest reported case and the only patient described with severe mitral valve prolapse and scoliosis. Electromyography demonstrated spontaneous positive sharp waves and fibrillation potentials with many low-amplitude, short, polyphasic motor unit potentials. The right deltoid muscle was characterized by focal areas with large fibers associated with increased endomysial connective tissue and "split" fibers. Purple-gray sarcoplasmic masses stained with trichrome were PAS-negative, appeared as "empty" spaces with both ATPase and NADH-TR, and stained darkly with menadione NBT. The features described expand the clinical presentation of this myopathy, and may lead to a better understanding of its etiology.
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PMID:A unique case of reducing body myopathy. 131 27

Recent studies have reported abnormal platelet morphology and function in patients with adolescent idiopathic scoliosis. These abnormalities include increased platelet size and dense body numbers, abnormal aggregation, thromboxane A2 synthesis, serotonin release to adenosine diphosphate and epinephrine stimulus, and decreased myosin-adenosine-triphosphatase-specific activity. It was postulated that a membrane-specific defect in calcium transport may be partially responsible for the abnormalities found. In response to a suggestion in the literature that platelet screening could be clinically useful in scoliosis evaluation as well as in basic research of its pathophysiology, a study was performed to evaluate platelet morphology, biochemistry, and function in patients with adolescent idiopathic scoliosis. Platelets from nine volunteers with adolescent idiopathic scoliosis were compared with cells from a control group of nine patients. No significant differences in measured platelet parameters were noted between adolescent idiopathic scoliosis patients and control groups. Platelets from both groups demonstrated normal aggregation and release patterns with all agents except for a mild decreased aggregation and secretion response to epinephrine. No significant differences were noted in serotonin or adenine nucleotide levels. No significant ultrastructural differences were noted. Earlier findings of an abnormal aggregation and secretion response to adenosine diphosphate, increased numbers of dense bodies, or increased intracellular calcium could not be confirmed. On the contrary, we found normal, if not slightly decreased, numbers of dense bodies per platelet and calcium levels that were not different from controls.
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PMID:Platelet function in adolescent idiopathic scoliosis. 155 84

A strain of Japanese quail, SQOHM, is known as a model of idiopathic scoliosis in humans. It shows hereditary scoliotic deformities occurring in the cervical region. Histological, histochemical and serological studies were performed in 51 scoliotic and 109 non-scoliotic quail. Histological study revealed internal nuclei and tiny groups of small fibers in the neck muscles. The incidence of these, however, was only 19% in the scoliotic and 7% in the non-scoliotic quail. Histochemical observation with adenosine triphosphatase, phosphorylase and succinic dehydrogenase stains was made on the dorsal neck muscles. An increase in the number of beta-fibers, and a decrease in the number and hyperplasia of alpha-fibers were observed on the concave side of the scoliosis. The increase in number of beta-fibers on the concave side can play a role in promoting the deformity was suggested.
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PMID:[Histological and histochemical changes in the neck muscles of spontaneously occurring scoliosis in a special strain of Japanese quail, SQOHM]. 169 2

Cylindrical spirals (CS) have been reported in muscle biopsies from five individual cases, as well as in two belonging to one family where there was another affected member, clinically associated with cramps, pain, stiffness and/or weakness. Here we studied muscle biopsies of a 70-yr-old mother and her 52-yr-old son, the latter with an associated neuropathy, both with late clinical onset in whose family at least 10 other members, spanning five generations, were diversely affected by muscular weakness, gait disorders, motor impairment and/or scoliosis, featuring an autosomal dominant trait with variable expression. CS as the main pathological findings were observed by light microscopy mostly in type 2 fibres, consisting of subsarcolemmal or intermyofibrillar granular and/or rod-like clusters, bluish with haematoxylin, bright red with Gomori's modified trichrome, non- or lightly reactive with PAS, faintly coloured with NADH-TR, non-reactive with SDH or ATPase, strongly stained with non-specific esterase and myoadenylate deaminase. Ultrastructurally, CS appeared as concentrically wrapped lamellae 1-2 microns in diameter. On occasion CS merged into tubular vesicular structures strongly resembling tubular aggregates (TA). Dilation of terminal cisternae (TC) in their proximity supports an origin from the sarcoplasmic reticulum (SR). Variable gene expression possibly explains both the highly diverse clinical compromise and time of onset.
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PMID:Autosomal dominant neuromuscular disease with cylindrical spirals. 182 55

Histochemical examinations of the paravertebral muscles and physiological studies were conducted on 17 patients affected with idiopathic scoliosis. Muscle specimens were obtained by needle biopsy. The specimens were removed from both sides of the apical vertebra of the curve and from vastus lateralis. Staining was as follows: 1. ATPase myosin; 2. capillary; 3. Periodic Acid-Schiff (PAS) for glycogen; 4. alpha-glycerophosphate dehydrogenase; 5. DPNH diaphorase. The physiological studies comprised maximum oxygen consumption, anaerobic threshold, isometric force of the flexor muscles of the elbow and femoral quadriceps muscle, and the flexibility of the lumbar spine, shoulder and hip joints. The histochemical tests of the paravertebral muscles showed muscles with a prevalently aerobic metabolic potential, with no evidence of myopathic changes. The physiological studies showed that at the stage at which these subjects were examined, scoliosis is an organic, not a systemic disease.
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PMID:Histochemical and physiological studies in idiopathic scoliosis. 211 83

Electromyographic studies have determined that muscle imbalance and asymmetry of stretch receptors in the paraspinal muscle of patients with idiopathic scoliosis may have a large role to play in the development and production of the deformity. This project consisted of a detailed histologic and histochemical analysis of the distribution of muscle spindles in paraspinal musculature of patients suffering from idiopathic scoliosis, using the reduced form of nicotinamide-adenine dinucleotide (NADH), adenosine triphosphatase (ATPase), and Tri-chrome stain techniques. Muscle biopsy samples were taken at operation for spinal instrumentation from each of 13 patients (mean age: 16.2 years; 3 males, 10 females) with all but one female exhibiting right thoracic curves. The samples were collected from two specific sites (superficial and deep) on both sides of the vertebral column at the level of the apex of the primary curve and two vertebral levels above and below the apex. From the results there appear to be few muscle spindles in the scoliotic muscle of this region. All of the patients from whom muscle samples were taken possessed at least one sample with a muscle spindle. However, each patient had very few samples which contained a minimum of one muscle spindle (mean: 20.3%; SD: 12.6). It is clear that further examination is necessary, particularly in the area of comparison with 'normal' standards when these standards become available.
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PMID:Muscle spindles in the paraspinal musculature of patients with adolescent idiopathic scoliosis. 246 Sep 30

Platelets of patients with idiopathic scoliosis (IS) have been shown to have decreased capacity to aggregate and secrete in response to certain agonists. Similarities between the contractile protein system of platelets and muscle have made the platelets a popular model for muscle disease. We attempted to characterize the function and structure of myosin in platelets of IS patients. Blood was obtained from seven IS patients and seven matched non-scoliotic healthy controls. The mean Cobb angle measurement of the IS patients was 35.4 degrees with a mean Risser sign of 2.2. Washed platelets were isolated from the blood, and the contractile proteins from the membrane and the cytosol compartments were isolated and analyzed by two-dimensional peptide mapping. As previously reported (J Biol Chem 258:9290, 1983), peptide maps of normal platelets revealed that the heavy chain of myosin located in the platelet membrane lacks one major spot relative to the cytoplasmic myosin. In IS patients the cytoplasmic myosin lacks the same peptide that is missing in the membrane myosin of normal individuals. In addition, the ATPase specific activity of the cytoplasmic myosin from IS platelets was significantly lower compared with the activity of the cytoplasmic myosin from normal platelets. These results suggest the presence of a fundamental abnormality of IS platelet contractile proteins.
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PMID:Altered structural and functional properties of myosins, from platelets of idiopathic scoliosis patients. 252 98

Measurements of total proteins, myosin, actin, actin-binding protein, and ATPase activity of myosin were examined in platelets from patients with idiopathic scoliosis and from healthy individuals. Abnormalities in the distribution of total and contractile proteins were revealed after fractionations. The insoluble fraction of the patients' platelets had a higher, and the cytosol fraction had a lower than normal protein content. Similar differences were observed in the specific activity of myosin ATPase. These findings show that in patients with idiopathic scoliosis platelet defects exist and that their study might be useful in research of the disease.
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PMID:Contractile protein studies on platelets from patients with idiopathic scoliosis. 621

A 19 years old woman suffered from claw feet and mild disorders of gait since infancy. Physical examination disclosed parseris of pelvis girdle, diffuse areflexia, mild dorsolumbar scoliosis, claw feet and a high arched palate. The facial muscles and cranial nerves were not involved. Serum enzymes were normal, EMG was consistent with a myopathy. Family examination and laboratory data were normal. On muscle biopsy, there were many muscle fibers with central nuclei and clear perinuclear areas, and a varying increase of adipose tissue. Histochemical studies showed type I fiber predominance and atrophy ; the central part of fibers was not stained by ATPase reactions but was strongly reactive with phosphorylase and oxidative stains. By electromicroscopy, central nuclei were separated by strands of glycogen ; there were no myofibrillar abnormalities. From a literature review, there is a large heterogeneity in genetic, clinical and pathological findings. Any attempt to class the different kinds of this disease is difficult, other than by the age of onset : --Early onset cases are characterized by neonatal hypotonia, severe disability and sometimes early death by pulmonary involvement. --Infantile and late onset cases have slower evolution. The nature of the disease remains unknown.
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PMID:[Centronuclear myopathy. Complete review of the literature apropos of a case]. 676 Aug 77


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