Involvement of renal apical Na transport systems in the control of blood pressure.
Human genetic studies and gene targeting techniques in mice suggest that the genes encoding renal apical Na transport proteins play an essential role in the control of extracellular fluid volume and blood pressure. Particularly, very significant advancements in understanding the role of these genes in Mendelian forms of hypertension or hypotension have been achieved in recent years. However, much progress still needs to be made in understanding the more common forms of human essential hypertension. In addition to the mouse models that should be very useful for investigating the mechanisms by which a mutation provokes the hypertensive phenotype, improved clinical phenotyping of patients is needed as well as the use of DNA chip techniques to unravel global gene interactions. Indeed, it is likely that most chronic blood pressure disturbances in a given environment result from a specific combination of polymorphisms or mutations rather than from unique genetic variants. Of equal importance will be definition of the various factors that regulate the expression and activity of the Na transport systems. These regulatory pathways and the responses to environmental factors such as dietary salt, stress, etc, may play a central role in determining the appearance, severity, and complications of essential hypertension.
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D000808:Angiotensinogen / Q000235:genetics; D000818:Animals; D001692:Biological Transport; D001794:Blood Pressure / Q000235:genetics / Q000502:physiology*; D002148:Calmodulin-Binding Proteins / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics / Q000502:physiology; D053503:Epithelial Sodium Channels; D006801:Humans; D006973:Hypertension / Q000235:genetics / Q000503:physiopathology; D007668:Kidney / Q000378:metabolism*; D051379:Mice; D012964:Sodium / Q000378:metabolism*; D015222:Sodium Channels / Q000235:genetics / Q000502:physiology; D049992:Sodium Chloride Symporters; D017923:Sodium-Hydrogen Exchangers / Q000235:genetics / Q000502:physiology; D028021:Sodium-Potassium-Chloride Symporters; D027981:Symporters; D000099291:Adducins
D000808:Angiotensinogen; D002148:Calmodulin-Binding Proteins; D002352:Carrier Proteins; D053503:Epithelial Sodium Channels; D012964:Sodium; D015222:Sodium Channels; D049992:Sodium Chloride Symporters; D017923:Sodium-Hydrogen Exchangers; D028021:Sodium-Potassium-Chloride Symporters; D027981:Symporters; D000099291:Adducins