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Resistance to hypertension and high Cl- excretion in humans with SLC26A4 mutations

Authors
 B.G. Kim  ;  T.-H. Yoo  ;  J.-E. Yoo  ;  Y.J. Seo  ;  J. Jung  ;  J.Y. Choi 
Citation
 CLINICAL GENETICS, Vol.91(3) : 448-452, 2017 
Journal Title
 CLINICAL GENETICS 
ISSN
 0009-9163 
Issue Date
2017
MeSH
Adolescent ; Adult ; Angiotensin I/blood ; Angiotensin II/blood ; Animals ; Blood Pressure/genetics* ; Chlorides/urine ; Electrolytes/urine ; Female ; Humans ; Hypertension/blood ; Hypertension/genetics* ; Hypertension/physiopathology ; Hypertension/urine ; Hypertrophy, Left Ventricular/blood ; Hypertrophy, Left Ventricular/genetics* ; Hypertrophy, Left Ventricular/physiopathology ; Hypertrophy, Left Ventricular/urine ; Male ; Membrane Transport Proteins/biosynthesis ; Membrane Transport Proteins/genetics* ; Mutation ; Renin/blood ; Sodium/urine ; Young Adult
Keywords
SLC26A4 ; blood pressure ; electrolyte ; hypertension ; pendrin ; urine
Abstract
Pendrin is a membrane transporter encoded by solute carrier family26A4 (SLC26A4). Mutations in this gene are known to cause hearing loss, and recent data from animal studies indicate a link between pendrin expression and hypertension; although, this association in humans is unclear. To clarify this issue, we investigated the influence of pendrin on blood pressure by analyzing demographic and biochemical data - including blood pressure and urinary electrolyte excretion - in patients with bi-allelic SLC26A4 mutations. Systolic and diastolic blood pressure and the left ventricular hypertrophy index were lower in subjects with pendrin mutations than in controls. In addition, fractional excretion of Na+ and Cl- was increased and serum renin, angiotensin I and II levels were higher in subjects with pendrin mutations as compared to controls. Thus, patients with impaired pendrin function are likely to be resistant to high blood pressure due to enhanced urinary Na+ /Cl- excretion. These results suggest that pendrin may regulate blood pressure through increased urinary salt excretion.
Full Text
http://onlinelibrary.wiley.com/doi/10.1111/cge.12789/abstract
DOI
10.1111/cge.12789
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Otorhinolaryngology (이비인후과학교실) > 1. Journal Papers
Yonsei Authors
Yoo, Tae Hyun(유태현) ORCID logo https://orcid.org/0000-0002-9183-4507
Jung, Jinsei(정진세) ORCID logo https://orcid.org/0000-0003-1906-6969
Choi, Jae Young(최재영) ORCID logo https://orcid.org/0000-0001-9493-3458
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/154550
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