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

The first instance of familial oculopharyngeal muscular dystrophy (OPMD) affecting a Japanese family is reported. Three patients (a 62-year-old female, her sisters 66-year-old and 53-year-old) were described with suspicious other 2 cases. A 62-year-old woman (case 1) developed bilateral blepharoptosis at the age of 52. Then she became aware of difficulty in swallowing solid foods, had developed a nasal voice and aspiration of liquids. On admission, neurological examination revealed moderate bilateral blepharoptosis, nasal voice, dysphagia and hyporeflexia of the pharynx. There was mild weakness of the muscles of the temporalis, masseter, face, neck and proximal portions of the upper limbs. The levels of serum creatine phosphokinase, lactic acid and pyruvic acid were normal. Tensilon test was negative. The needle EMG showed a myogenic pattern with no waning phenomenon. Nasopharyngeal fiberscopy, laryngoscopy, esophageal fluoroscopy and hydrodynamic examination showed dyskinesis of the soft palate, retention of saliva in recessus piriformis and streaming into the larynx. Cricopharyngeal myotomy was performed for the purpose of relieving the dysphagia. The muscles were obtained from cricopharyngeus of both sides during surgery, and right deltoid muscle in biopsy. The muscles of sternohyoideus and deltoideus showed myogenic changes, and some fibers with rimmed vacuoles especially in small angulated fibers under the light microscope. Whereas the crycopharyngeus showed dystrophic change, which was apparent in the right side. There were also nemaline rods found in a few fibers undergoing necrosis. ATPase preparations revealed type 1 predominant in cricopharyngeus and type 2 predominant in sternohyoideus. Most atrophic fibers were in type 1 fibers.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Oculopharyngeal muscular dystrophy in a Japanese family]. 218 63

We examined whether Ca(2+) mobilizers induce endothelium-dependent contraction and relaxation (EDC and EDR) in isolated rabbit intrapulmonary arteries. Ionomycin (10(-7) M) and A-23187 (10(-7) M), both Ca(2+) ionophores, and thapsigargin (10(-6) M), an endoplasmic reticulum Ca(2+)-ATPase inhibitor, caused a contraction in the non-contracted preparations, and a transient relaxation followed by a transient contraction and sustained relaxation in the precontracted preparations. Endothelium-removal abolished the contraction and transient relaxation (EDC and EDR) but not sustained relaxation (endothelium-independent relaxation, EIR). In the noncontracted preparations, ionomycin-induced EDC was significantly attenuated by quinacrine (10(-5) M), manoalide (10(-6) M), both phospholipase A(2) inhibitors, indomethacin (10(-5) M) and aspirin (10(-4) M), both COX inhibitors, and ozagrel (10(-5) M), a TXA(2) synthetase inhibitor. In the precontracted arteries, EDR was markedly reduced by L-NAME (10(-4) M), a NOS inhibitor, and methylene blue (10(-6) M), a guanylate cyclase inhibitor, and was enhanced by indomethacin, aspirin and ozagrel, probably due to inhibition of EDC. ZM230487, a 5-lipoxygenase inhibitor, had no effect on EDR. EIR was not affected by L-NAME, indomethacin or ZM230487. Arachidonic acid (10(-6) M) evoked EDC sensitive to indomethacin and ozagrel. L-Arginine (10(-3) M) caused EDR sensitive to L-NAME in the ionomycin-stimulated preparations. In conclusion, Ca(2+) mobilizers cause EDC and EDR via production of TXA(2) and NO, respectively.
 ...
PMID:Role of intracellular Ca2+ in endothelium-dependent contraction and relaxation of rabbit intrapulmonary arteries. 1258 21