ATPase V: Diferenzas entre revisións

The importance of V-ATPase activity in renal proton secretion is highlighted by the inherited disease distal [[renal tubular acidosis]]. In all cases, renal tubular acidosis results from a failure of the normal [[renal]] mechanisms that regulate systemic pH. There are four types of renal tubular acidosis. Type 1 is distal renal tubular acidosis and results from a failure of the [[cortical collecting duct]] to acidify the urine below pH 5. {Alper, 2002}. Some patients with [[autosomal recessive]] dRTA also have [[sensorineural hearing loss]] {Karet, 1999}. Inheritance of this type of RTA results from either mutations to V-ATPase subunit isoform B1 or isoform a4 or mutations of [[band 3]] (also called AE1), a Cl-/HCO3- exchanger {Stehberger, 2003; Karet, 1999; Karet, 1998}. Twelve different mutations to V-ATPase isoform B1 (Stover, 2002) and twenty-four different mutations in a4 lead to dRTA {Smith, 2000; Karet, 1999; Stover, 2005}. [[Reverse transcription]] [[polymerase chain reaction]] studies have shown expression of the a4 subunit in the intercalated cell of the kidney and in the [[cochlea]] {Stover, 2002}. dRTA caused by mutations in the a4 subunit gene in some cases can be associated with deafness due to a failure to normally acidify the [[endolymph]] of the [[inner ear]] {Stehberger, 2003}.

 

 

 

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