Document Detail


The molecular basis of blood pressure variation.
MedLine Citation:
PMID:  22763847     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Advances in genetic mapping and sequencing techniques have led to substantial progress in the study of rare monogenic (Mendelian) forms of abnormal blood pressure. Many disease-defining pathways for hypertension have been identified in the past two decades. Perturbations in renal salt handling appear to be a common mechanism underlying these rare syndromes of hypertension. Excess activation at various points in the mineralocorticoid signaling pathway and malfunctioning of the autonomic (specifically sympathetic) nervous system have both been implicated in inducing hypertension, while complementary studies examining low blood pressure phenotypes have identified novel pathways exclusively linked to renal salt wasting in either the thick ascending limb or the distal nephron. The genetic defects and the physiological and cellular pathways affected in these various disorders are reviewed here. Importantly, studies have suggested that genetic variation affecting these same genes and pathways may play an important role in explaining the variation of blood pressure levels in the general population. The investigation of rare syndromes of human blood pressure variation has important implications for improving the diagnosis and treatment of hypertension.
Authors:
Hakan R Toka; Jacob M Koshy; Ali Hariri
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-7-5
Journal Detail:
Title:  Pediatric nephrology (Berlin, Germany)     Volume:  -     ISSN:  1432-198X     ISO Abbreviation:  -     Publication Date:  2012 Jul 
Date Detail:
Created Date:  2012-7-5     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8708728     Medline TA:  Pediatr Nephrol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Department of Nephrology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA, htoka@partners.org.
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