Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome

2002 ◽  
Vol 443 (3) ◽  
pp. 466-472 ◽  
Author(s):  
Patrick G. Starremans ◽  
Annemiete W. van der Kemp ◽  
Nine V. Knoers ◽  
Lambertus P. van den Heuvel ◽  
René J. Bindels
2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Guglielmo Schiano ◽  
Bob Glaudemans ◽  
Eric Olinger ◽  
Nadine Goelz ◽  
Michael Müller ◽  
...  

AbstractUromodulin, the most abundant protein in normal urine, is produced by cells lining the thick ascending limb (TAL) of the loop of Henle. Uromodulin regulates the activity of the potassium channel ROMK in TAL cells. Common variants in KCNJ1, the gene encoding ROMK, are associated with urinary levels of uromodulin in population studies. Here, we investigated the functional link between ROMK and uromodulin in Kcnj1 knock-out mouse models, in primary cultures of mouse TAL (mTAL) cells, and in patients with Bartter syndrome due to KCNJ1 mutations. Both global and kidney-specific Kcnj1 knock-out mice showed reduced urinary levels of uromodulin paralleled by increased levels in the kidney, compared to wild-type controls. Pharmacological inhibition and genetic deletion of ROMK in mTAL cells caused a reduction in apical uromodulin excretion, reflected by cellular accumulation. In contrast, NKCC2 inhibition showed no effect on uromodulin processing. Patients with Bartter syndrome type 2 showed reduced urinary uromodulin levels compared to age and gender matched controls. These results demonstrate that ROMK directly regulates processing and release of uromodulin by TAL cells, independently from NKCC2. They support the functional link between transport activity and uromodulin in the TAL, relevant for blood pressure control and urinary concentrating ability.


2017 ◽  
Vol 292 (31) ◽  
pp. 12813-12827 ◽  
Author(s):  
Brighid M. O'Donnell ◽  
Timothy D. Mackie ◽  
Arohan R. Subramanya ◽  
Jeffrey L. Brodsky

Author(s):  
M.C. Castillo-Jessen ◽  
A. González-Angulo

Information regarding the normal morphology of uterine blood vessels at ultrastructural level in mammals is scarce Electron microscopy studies dealing with endometrial vasculature despite the functional implications due to hormone priming are not available. Light microscopy observations with combined injection of dyes and microradiography along with histochemical studies does not enable us to know the detailed fine structure of the possible various types of blood vessels in this tissue. The present work has been designed to characterize the blood vessels of endometrium of mice as well as the behavior of the endothelium to injection of low molecular weight proteins during the normal estrous cycle in this animal. One hundred and forty female albino mice were sacrificed after intravascular injection of horse radish peroxidase (HRP) at 30 seconds, 5, 15, 30 and 60 minutes.


GeroPsych ◽  
2013 ◽  
Vol 26 (3) ◽  
pp. 185-199 ◽  
Author(s):  
Christina Röcke ◽  
Annette Brose

Whereas subjective well-being remains relatively stable across adulthood, emotional experiences show remarkable short-term variability, with younger and older adults differing in both amount and correlates. Repeatedly assessed affect data captures both the dynamics and stability as well as stabilization that may indicate emotion-regulatory processes. The article reviews (1) research approaches to intraindividual affect variability, (2) functional implications of affect variability, and (3) age differences in affect variability. Based on this review, we discuss how the broader literature on emotional aging can be better integrated with theories and concepts of intraindividual affect variability by using appropriate methodological approaches. Finally, we show how a better understanding of affect variability and its underlying processes could contribute to the long-term stabilization of well-being in old age.


1991 ◽  
Author(s):  
James O. Douglass ◽  
◽  
Macdonald Christie ◽  
John P. Adelman ◽  
R. Alan North
Keyword(s):  

Planta Medica ◽  
2008 ◽  
Vol 74 (09) ◽  
Author(s):  
SDF Souza ◽  
CS Franca ◽  
FV Menezes ◽  
LCB Costa ◽  
ES Niculau ◽  
...  

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