Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P20020 (adenosine triphosphatase)
 3,299 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Regulation of calcium balance is important in the secretory function of pancreatic islets. Ca2+-adenosine triphosphatase (ATPase) is altered in tissues of non-insulin-dependent diabetes mellitus (NIDDM) rats, and they have an impaired response to glucose, "glucose blindness." We propose that the glucose blindness of the diabetic islet is the result of defective cellular calcium metabolism. Since Ca2+-ATPase activity is important in the regulation of calcium balance, we investigated the effect of glucose and/or calcium on Ca2+-ATPase activity in pancreatic islets in vitro and compared it with the effect in freshly isolated islets from controls and from rats with NIDDM induced by streptozotocin neonatally. Islets were isolated using collagenase and were stored fresh or cultured up to 2 days in RPMI 1640 in the presence of different concentrations of glucose and calcium. Membrane Ca2+-ATPase activity, insulin secretion, and insulin content were determined. Ca2+-ATPase activity was 1.30 +/- 0.20 micromol/L Pi/microg membrane protein in normal noncultured islets and 1.02 +/- 0.15 in islets cultured in 5.6 mmol/L glucose. Ca2+-ATPase activity progressively decreased to 0.56 +/- 0.10 and 0.34 +/- 0.14 micromol/L Pi/microg membrane protein when glucose was increased in the culture media to 16.6 and 27.7 mmol/L, respectively. Decreasing glucose to 2.8 mmol/L did not alter Ca2+-ATPase activity. Increasing or decreasing the Ca2+ content of the media did not significantly change Ca2+-ATPase activity. Islets isolated from NIDDM rats had lower basal Ca2+-ATPase activity and insulin content compared with normal controls. Incubation of islets from diabetic rats in high glucose further decreased the Ca2+-ATPase content, but incubation in low glucose did not reverse it. Insulin secretion was responsive to glucose and calcium in normal islets, but was suppressed in islets from diabetic animals. From these studies, we conclude that high glucose, but not calcium, decreases Ca2+-ATPase activity in islets from normal rats. Islets from NIDDM rats with glucose blindness have decreased Ca2+-ATPase activity, likely due to the glucose status. We suggest that this decreased Ca2+-ATPase activity may contribute to the pancreatic islets' glucose blindness.
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PMID:The effect of glucose and calcium on Ca2+-adenosine triphosphatase in pancreatic islets isolated from a normal and a non-insulin-dependent diabetes mellitus rat model. 947 68

Mitochondrial DNA defects were known to be associated with a wide spectrum of human diseases and patients might present a wide range of clinical features in various combinations. In the current study, we described a patient with psychomotor and neurodevelopmental delay, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, leukodystrophy, and congenital deafness. He also had tetraplegia, with central blindness and swallowing difficulty. Brain magnetic resonance imaging (MRI) showed involvement of the interpeduncular nucleus and central tegmental tract, white matter abnormalities, and cerebellar atrophy. A whole mitochondrial genome screening revealed the presence of 19 reported polymorphisms and an undescribed A to G mutation at nucleotide 8411 (p.M16V) affecting a conserved region of the mitochondrial adenosine triphosphatase (ATPase) 8 protein. This de novo mutation was detected in heteroplasmic form (97%) and was absent in 120 controls. Thus, the m.8411A>G mutation could strongly be associated with the disease in the tested patient.
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PMID:A de novo mutation in the adenosine triphosphatase (ATPase) 8 gene in a patient with mitochondrial disorder. 2020 8