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Molecular genetics of Liddle's syndrome.

Authors :
Kun-Qi Yang
Yan Xiao
Tao Tian
Ling-Gen Gao
Xian-Liang Zhou
Source :
Clinica Chimica Acta. Sep2014, Vol. 436, p202-206. 5p.
Publication Year :
2014

Abstract

Liddle's syndrome, an autosomal dominant form of monogenic hypertension, is characterized by salt-sensitive hypertension with early penetrance, hypokalemia, metabolic alkalosis, suppression of plasma rennin activity and aldosterone secretion, and a clear-cut response to epithelial sodium channel (ENaC) blockers but not spironolactone therapy. Our understanding of ENaCs and Na+ transport defects has expanded greatly over the past two decades and provides detailed insight into the molecular basis of Liddle's syndrome. In this review, we offer an overview of recent advances in understanding the molecular genetics of Liddle's syndrome, involving mutation analysis, molecular mechanisms and genetic testing. The ENaC in the distal nephron is composed of α, β and γ subunits that share similar structures. Mutations associated with Liddle's syndrome are positioned in either β or γ subunits and disturb or truncate a conserved proline-rich sequence (i.e., PY motif), leading to constitutive activation of the ENaC. Genetic testing has made it possible to make accurate diagnoses and develop tailored therapies for mutation carriers. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
00098981
Volume :
436
Database :
Academic Search Index
Journal :
Clinica Chimica Acta
Publication Type :
Academic Journal
Accession number :
97417060
Full Text :
https://doi.org/10.1016/j.cca.2014.05.015