Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 24-year-old woman with ataxia-telangiectasia had traumatic arthritis, elevated serum transaminase values, polyuria, polydipsia, and a serum glucose level of 575 mg/dL. A relatively high daily dose of insulin (2.8 U/kg) was required to achieve near normoglycemia. The fasting insulin concentration was elevated. During an insulin-modified frequently sampled intravenous glucose tolerance test, the first phase of insulin release in response to the administration of glucose was blunted. The insulin sensitivity was similar to that found in individuals with non-insulin-dependent diabetes mellitus. Insulin receptor antibodies were not detected in the serum. We conclude that insulin resistance and islet beta-cell dysfunction are characteristics of diabetes mellitus in ataxia-telangiectasia. Contrary to a previous report, our findings do not support a cause-and-effect relationship between insulin receptor antibodies and insulin resistance in this disorder.
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PMID:Insulin-resistant diabetes mellitus in a black woman with ataxia-telangiectasia. 863 4

Little is known about prostaglandin F(2alpha) in cardiovascular homeostasis. Prostaglandin F(2alpha) dose-dependently elevates blood pressure in WT mice via activation of the F prostanoid (FP) receptor. The FP is expressed in preglomerular arterioles, renal collecting ducts, and the hypothalamus. Deletion of the FP reduces blood pressure, coincident with a reduction in plasma renin concentration, angiotensin, and aldosterone, despite a compensatory up-regulation of AT1 receptors and an augmented hypertensive response to infused angiotensin II. Plasma and urinary osmolality are decreased in FP KOs that exhibit mild polyuria and polydipsia. Atherogenesis is retarded by deletion of the FP, despite the absence of detectable receptor expression in aorta or in atherosclerotic lesions in Ldlr KOs. Although vascular TNF(alpha), inducible nitric oxide enzyme and TGF(beta) are reduced and lesional macrophages are depleted in the FP/Ldlr double KOs, this result reflects the reduction in lesion burden, as the FP is not expressed on macrophages and its deletion does not alter macrophage cytokine generation. Blockade of the FP offers an approach to the treatment of hypertension and its attendant systemic vascular disease.
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PMID:Prostaglandin F2alpha elevates blood pressure and promotes atherosclerosis. 1941 58

Vasopressin, angiotensin II (AngII), and aldosterone are essential hormones in the regulation of body fluid homeostatsis. We examined the effects of AngII or aldosterone on the regulation of body water balance. We demonstrated that 1) short-term treatment with AngII in the primary cultured inner medullary collecting duct cells played a role in the regulation of AQP2 targeting to the plasma membrane through AT1 receptor activation. This potentiated the effects of dDAVP on cAMP accumulation, AQP2 phosphorylation, and AQP2 plasma membrane targeting; 2) pharmacological blockade of the AngII AT1 receptor in rats co-treated with dDAVP and dietary NaCl-restriction (to induce high plasma endogenous AngII) resulted in an increase in urine production, a decrease in urine osmolality, and blunted the dDAVP-induced upregulation of AQP2; 3) long-term aldosterone infusion in normal rats or in rats with diabetes insipidus was associated with polyuria and decreased urine concentration, accompanied by decreased apical but increased basolateral AQP2 labeling intensity in the connecting tubule and cortical collecting duct; and 4) in contrast to the effects of dDAVP and AngII, short-term aldosterone treatment does not alter the intracellular distribution of AQP2. In conclusion, angiotensin II, and aldosterone could play a role in the regulation of renal water reabsorption by changing intracellular AQP2 targeting and/or AQP2 abundance, in addition to the vasopressin.
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PMID:Regulation of AQP2 in Collecting Duct : An emphasis on the Effects of Angiotensin II or Aldosterone. 2445 95