2018
DOI: 10.1080/14756366.2018.1540475
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Carbonic anhydrase 12 mutation modulates membrane stability and volume regulation of aquaporin 5

Abstract: Patients carrying the carbonic anhydrase12 E143K mutation showed the dry mouth phenotype. The mechanism underlying the modulation of aquaporin 5 and function in the salivary glands by carbonic anhydrase12 remains unknown. In this study, we identified the mislocalised aquaporin 5 in the salivary glands carrying the E143K. The intracellular pH of E143K cells was more acidic than that of the cells carrying wild type. To evaluate the role of carbonic anhydrase12 on the volume regulation of aquaporin 5, the submand… Show more

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Cited by 10 publications
(11 citation statements)
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“…Additionally, AQP3 and AQP4 have been associated with normal physiological processes in skin hydration and CNS, respectively. Human patients carrying E143K mutation in carbonic anhydrase showed a dry mouth syndrome due to mislocalization of AQP5 in the salivary glands [30]. Collectively, mouse KO and other studies have shown a critical role of AQPs in several normal physiological processes in extrapulmonary organs [reviewed in [6].…”
Section: Extrapulmonary Rolementioning
confidence: 99%
“…Additionally, AQP3 and AQP4 have been associated with normal physiological processes in skin hydration and CNS, respectively. Human patients carrying E143K mutation in carbonic anhydrase showed a dry mouth syndrome due to mislocalization of AQP5 in the salivary glands [30]. Collectively, mouse KO and other studies have shown a critical role of AQPs in several normal physiological processes in extrapulmonary organs [reviewed in [6].…”
Section: Extrapulmonary Rolementioning
confidence: 99%
“…This was explained by a possible theory that CA12 (E143K) mutation generates an acidic environment intracellularly, and this low pH may affect AQP5, which are considered pH sensitive. [Hong et al, 2015;Hwang et al, 2019]. Further investigation of this association is needed to possibly understand the complex mechanisms of dental erosions development.…”
Section: Discussionmentioning
confidence: 99%
“…The calcein-AM was excited at 495 nm, and the emitted fluorescence was measured at 515 nm. The volume of FLS or HEK293T cells was determined using a hypertonic (400 mOsm/L, Table 1 ) solution ( Hwang et al, 2019 ). Fluorescence images were automatically captured at 1-s intervals using a CCD camera (Q-Imaging, British Columbia, Canada, Retiga 6000) linked to an inverted microscope (Olympus, Tokyo, Japan) and analyzed with the MetaFluor system (Molecular Devices).…”
Section: Methodsmentioning
confidence: 99%