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)

In two sisters with a neo-natal hypotonia, muscle biopsies demonstrated as main pathological feature a disproportion in size between the two types of muscle fibers defined according to their myofibrillar ATPase activity. Type I fiber mean diameter was at the lower limit of the normal values, and type II fibers were larger than normal. Their father's biopsy also showed an abnormal smallness of the type I fibers, with a bimodal distribution. By electron microscopy, the small type I fibers did not reveal any significant abnormality in children's biopsies. In father's biopsy, there was an abnormal degree of filamentary interchange between contiguous myofibrils and a few stacks of rods in the type I fibers. These three cases demonstrate the familiar character of the disorder. The relationship of this new entity with the other congenital myopathies is controversial, as a similar congenital fiber type disproportion, has been found in association with different ultrastructural changes. Several data favour an insufficient development of the type I fibers rather than an atrophying process. The mechanism of this "hypotrophy" remains unknown.
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PMID:[Congenital desproportion of various types of muscle fiber, with relative small size of type I fibers. Morphological documents on muscle biopsies in 3 members of the same family]. 13 Jun 71

A six year old boy had congenital hypotonia and nonprogressive proximal muscular weakness, with mild abnormalities in the E. M. G. and normal serum enzyme levels. There was lack of fibre type differentiation in the quadriceps muscle biopsy. The fibres had high oxidative enzyme activity and low ATPase 9.4 activity. In almost every fibre there were multiple areas of focal decrease of oxidative enzyme activity, resembling in few of them the lesion described in Central Core Disease. There was abscence of mitochondria and disorganization of the sarcomere with streaming of the Z line within the lesions. The clinical and histological observations have close similarity to the cases first described by A. G. Engel et al. in 1971 as "Multicore Diseases" and to other similar reported cases.
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PMID:Multicore disease. Report of a case with lack of fibre type differentiation. 21 46

A sporadic case of central core disease in a 5 1/2-year-old girl is reported. Clinically, a retarded motor development existed, furthermore, a muscle weakness and hypotonia of the extremities and trunk, contractures of the hip- and knee-joint,and luxation of both hip-joints. Biopsy specimens are taken from both Mm. gastrocnemii. Muscle fibres show, by morphologic examination, 95 per cent cores, which are characteristic for this myopathy. A further abnormality is seen inthe histochemical preparations for phosphorylase, succinate dehydrogenase, NAD diaphorase tetrazolium reductase, myofibrillar ATPase as well as AS-reaction with and without diastase digestion. With these techniques the muscle fibres show an uniform reaction pattern in which the activities of the oxidative andglycolytic enzymes correspond to the type I fibres of healthy persons. The cores show a lack of a activity of the oxidative and glycolytic enzymes as well as are ATPase- and PAS-negative. By reason of this histochemical behaviour it is suggested that the cores are predominantly unstructured. The cause of this disease might be complex disturbances in the neuro-muscular system manifested in the fetal period.
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PMID:[A case of central core disease. Light microscopic and histochemical studies (author's transl)]. 84 74

Two cases of non-progressive congenital hypotonia are described in siblings, male and female, aged 5 and 9 years, respectively, which morphologically correspond to myopathy with multicore or minicore. The study of these 2 cases is compared with those described in the literature, with special emphasis on the analysis of the histochemical picture. The disease in all the cases is defined by the presence of multiple small foci of loss of cross striation with loss of activity of myofibrillar ATPase and oxidative enzymes. Furthermore, a predominance and hypotrophy of type I fibers and in some cases hypertrophy of type II is constantly recorded, which is interpreted as an alteration in muscle maturation. We review other myopathies described with focal loss of cross-striation which associate central nuclei with the myofibrillar lesion, considering them to be myopathy with multicore or minicore.
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PMID:Myopathy with multiple minicore--report of two siblings. 644 77

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

A case of a 6-years-old boy with delayed motor milestones, hypotonia since birth (floppy baby), showing a partial improvement in the latter years is reported. On physical examination was found diffuse muscle atrophy, lordosis, generalized hyporeflexia and Gowers maneuver during standing procedure. Serum enzymes were normal and electromyography had potential with increased duration and excess of polyphasic potentials. Fresh-frozen muscle biopsy processed by histochemistry showed type 1 fiber predominance, absence of oxidative enzyme activity in the center of the fibers (central cores) and slight increased of the ATPase reaction in the cores area (structured cores?). Is made a brief discussion about the pathology, pathogenesis, and the good prognosis of the disease.
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PMID:["Central core" myopathy: report of a case]. 728 3

A case of an unusual congenital myopathy is reported. The boy presented at birth with generalized muscular hypotonia and dysmorphic features. Muscle biopsy at the age of 10 years revealed focal areas with decreased ATPase activity and variable oxidative enzyme activity. There was only one type II fiber in the whole section. 22.5% of fibers had central nuclei, sometimes with radial arrangement of the intermyofibrillary network. Focal lesions displayed strong desmin and weak vimentin immunoreactivity. On electron microscopic examination normal sarcomeres were focally disrupted and mitochondria were absent from these areas; the normal structure was replaced by numerous fragments of sarcoplasmic reticulum, filamentous material, scattered glycogen particles, and the Z-line was replaced by irregular longitudinal streaks of electron-dense fibrillar material. We classify this case as a congenital myopathy with focal loss of cross striations.
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PMID:Congenital myopathy with focal loss of cross striations: a case report with morphologic and immunohistochemical study. 854 96

The severe neonatal centronuclear/myotubular myopathy (XLMTM) is an X-linked disorder characterized by generalized muscle weakness, hypotonia and serious respiratory insufficiency. The gene for this disease has been assigned to the long arm of chromosome X in the Xq28 band. Ca2+ ATPase isoform-3 (ATP2B3) has also been mapped to the human Xq28 region. Moreover, it is expressed in fetal but not in adult muscle, suggesting the developmental regulation of gene transcription. These findings render the ATP2B3 gene as an interesting candidate gene for XLMTM. Four families and 7 unrelated XLMTM patients have been analysed by using cDNA and genomic probes of ATP2B3. No large deletions or duplications have been found but a new EcoRI polymorphism has been identified. In addition, the DNA of an XLMTM male deletion patient has been hybridized with the ATP2B3 gene sequences. Our results therefore support the exclusion of ATP2B3 as the causal disease gene of XLMTM. The isolation of the MTM1 gene has recently been reported by another group. However, our approach has led to the detection of a new polymorphism that is an informative marker for linkage and mutation studies in other Xq28-mapped neurological or neuromuscular disorders.
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PMID:Detection of a new polymorphism in the plasma-membrane Ca2+ ATPase isoform-3 gene and its exclusion as a candidate for X-linked myotubular myopathy (MTM1). 893

Three unrelated young children are reported to have suffered since birth from muscle hypotonia and two of them from fatal respiratory insufficiency. Muscle tissues were found to contain large masses of thin myofilaments, immunologically identified as containing actin, but without further morphological features. These masses of thin filaments were found in different muscles at different occasions in the three children, suggesting a disease-specific morphological and possibly nosological feature all of them justifying classification as congenital myopathy with excess of actin or actin myopathy. The lesions were dissimilar to hyaline bodies in that the latter consist of granular material which is faintly positive for ATPase activity whereas the masses of thin filaments are devoid of ATPase activity. Two of our three patients also had intranuclear rods with virtually no sarcoplasmic rods suggesting the term of this congenital myopathy as actin myopathy with intranuclear rods.
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PMID:Congenital myopathy with excess of thin myofilaments. 918 79

The inherited neurometabolic disease d-2-hydroxyglutaric aciduria is complicated by progressive neurodegeneration of vulnerable brain regions during infancy and early childhood, frequently presenting with hypotonia, epilepsy and psychomotor retardation. Here, we report that the pathogenetic role of the endogenously accumulating metabolite d-2-hydroxyglutarate (D-2), which is structurally similar to the excitatory amino acid glutamate, is mediated by at least three mechanisms. (i) D-2-induced excitotoxic cell damage in primary neuronal cultures from chick and rat involved N-methyl-d-aspartate (NMDA) receptor activation. Indeed, D-2 activated recombinant NMDA receptors (NR1/NR2A, NR1/NR2B) but not recombinant alpha-amino-3-hydroxy-5-methyl-4-isoxazole (AMPA) receptors in HEK293 cells. (ii) Fluorescence microscopy using fura-2 as a calcium indicator and the oxidant-sensitive dye dihydrorhodamine-123 revealed that D-2 disturbed intracellular calcium homeostasis and elicited the generation of reactive oxygen species. (iii) D-2 reduced complex V (ATP synthase) activity of the mitochondrial respiratory chain, reflecting an impaired energy metabolism due to inhibition of ATP synthesis but without affecting the electron-transferring complexes I-IV. Thus, D-2 stimulates neurodegeneration by mechanisms well-known for glutamate, NMDA or mitochondrial toxins. In conclusion, excitotoxicity contributes to the neuropathology of d-2-hydroxyglutaric aciduria, highlighting new neuroprotective strategies.
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PMID:NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria. 1215 28


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