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)

The fundamental similarity between platelets and muscle, suggested the possiblity of a shared defect in idiopathic scoliosis, a genetic disease with lateral deformity of the spine in which there is an elevation of calicum concentration in muscles and platelets. A variety of platelet tests revealed the following abnormalities: (1) Electron microscopic x-ray analysis and x-ray fluorescence spectrometry showed a 2- to 3-fold increase in calcium and phosphorus in whole cells and in individual dense bodies. (2) Electron microscopy morphometry revealed an increase in electron-opaque bodies in air-dried cells; granules and microtubules were unchanged. There were more large cells and membranous complexes. (3) Aggregations with epinephrine and ADP were depressed in some patients. (4) Proteins (total and contractile) and myosin. ATPase activity in centrifuged fractions of platelets were decreased in the cytosol and increased in the fraction containing membranes and granules. The correlated findings suggest that platelets in idiopathic scoliosis have a mild calcium transport defect related to membrane and/or contractile protein metabolism. This investigation also shows that platelets may be used to advantage in diagnosis and research of muscle diseases.
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PMID:Platelet pathology in patients with idiopathic scoliosis: Ultrastructural morphometry, agrregations, x-ray spectrometry, and biochemical analysis. 689 14

References to histochemistry are extensive for human limb muscles but occur less frequently in relation to vertebral muscle. Most vertebral muscle literature has been concerned with muscle fibre characteristics in the lumbar and thoracic spine, due in large part to the incidence of low back pain and idiopathic scoliosis. However few studies have investigated the histochemical composition of neck muscles in humans: and, to our knowledge, no previous study has examined the antagonistic longus colli and multifidus muscle pair. In addition, while age-related segmental degeneration is most prominent between C5 and C7, it is not known whether these osteoligamentous changes are paralleled by changes in muscle fibre ratio. Tissue blocks comprising muscle and bone from C5-C7 segments were harvested at autopsy from 16 subjects with ages ranging from 4 to 77 years. The prevertebral longus colli and postvertebral multifidus muscle pairs were randomly selected from one or other side in each subject. The tissue was frozen, sectioned and histochemically stained for myofibrillar adenosine triphosphatase. Analysis of muscle fibre types was performed by light microscopy. Wilcoxon paired t-tests were used to ascertain whether intramuscular and intermuscular differences in fibre composition were significant. In addition, correlation and regression analyses were used to determine whether fibre type proportions changed in either muscle with increasing age. The present study has revealed histochemical differences between longus colli and multifidus at the level of the C5-C7 vertebral segments. Multifidus comprises a significantly greater proportion of type I than type II fibres. Longus colli comprises a significantly greater proportion of type II fibres than multifidus. Further there were no changes in fibre type proportion in either muscle with increasing age. These observations suggest that longus colli responds equally to postural and phasic demands, whereas multifidus is predominantly postural. Also it would appear that age-related structural alterations in lower cervical segments are not paralleled by changes in muscle fibre ratio.
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PMID:Comparative histochemical composition of muscle fibres in a pre- and a postvertebral muscle of the cervical spine. 1178 24

Non-progressive congenital myopathy is a group of muscle diseases occurring at birth or during teenage years. A number of new reports of congenital myopathy, such as homogeneous bodies myopathy, muscle quality control myopathy and type 1 fiber predominance have recently been reported, but they lack of sufficient quantity and constant clinico-pathologic manifestations. This paper reports two cases of congenital myopathy with type 1 fiber predominance confirmed by muscle biopsy. The clinical manifestations of the two children (a 4.5-year-old girl and an 11-year-old boy) included non-progressive symptoms of muscle weakness, skeletal deformities and other clinical features of congenital myopathy. The physical examinations showed a long face or figure and funnel chest or kyphosis/scoliosis, high palatal arch and wing-like shoulder. Serum levels of creatine kinase were normal but slightly elevated serum lactate dehydrogenase levels were noted in the two children. The skeletal muscle biopsy by ATPase staining showed that type 1 fibers accounted for more than 90% of the total number of muscle fibers. No other abnormal pathological changes, such as central cores, muscle tube and central nuclei, were found in the two children.
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PMID:[Congenital myopathy with type 1 fiber predominance in two children]. 2167 27

Morphological, biochemical, and histopathological alterations in the paraspinal skeletal muscle of patients with adolescent idiopathic scoliosis (AIS) have been extensively reported. We evaluated rotator muscle fibers from the apex vertebra of AIS patients through histological and immunohistochemical analysis. A population of 21 female AIS patients who underwent corrective surgery between 2010 and 2013 had biopsies taken from the paraspinal muscle in the convex and concave sides of the thoracic curve apical vertebra. Serial sections were stained following routine protocols for hematoxylin and eosin (HE), Sudan red, Gomori trichrome, NADH, ATPase, and cytochrome oxidase. We assessed muscular atrophy and hypertrophy, fatty proliferation, endomysial and perimysial fibrosis, the presence of hyaline fibers, mitochondrial proliferation, muscular necrosis, nuclear centralization, and inflammation. Two independent professionals evaluated the slices. The thoracic curves had an average Cobb angle of 68 degree. Comparative analysis of the concave and convex sides was performed with McNemar test at a significance level of 5%. Results showed significant differences in both endomysial and perimysial fibrosis and fatty involution between the two sides of the apex vertebra. Paraspinal muscles in the concave side of the scoliosis apex had significantly more fibrosis and fatty involution. However, both sides showed signs of myopathy, muscular atrophy due to necrosis, presence of hyaline fibers, and mitochondrial proliferation.
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PMID:Histochemical analysis of paraspinal rotator muscles from patients with adolescent idiopathic scoliosis: a cross-sectional study. 2571 69

Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)-congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade. Here, we further expand the list of inborn errors of metabolism associated with cutis laxa by describing the clinical presentation of a 17-month-old girl with Leigh-like syndrome due to enoyl coenzyme A hydratase, short chain, 1, mitochondria (ECHS1) deficiency, a mitochondrial matrix enzyme that catalyzes the second step of the beta-oxidation spiral of fatty acids and plays an important role in amino acid catabolism, particularly valine.
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PMID:Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. 2840 71


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