Genetics of renal mechanisms of primary hypertension: The role of adducin

Cristina Barlassina, Lorena Citterio, Luca Bernardi, Laura Buzzi, Marco D'Amico, Teresa Sciarrone, Giuseppe Bianchi

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: To summarize data concerning the identification of adducin as a 'candidate' gene in the Milan hypertensive strain of rats (MHS), a genetic model of essential hypertension, and in human essential hypertension. Results: The sequence of events from renal function to cell membrane ion transports and finally to the molecular defect has been established in MHS rats. This led to the identification of polymorphisms in the cytoskeletal protein adducin. These polymorphisms are involved in blood pressure regulation in these rats. A linkage and an association study on Caucasian populations support the involvement of adducin in human hypertension also. A polymorphism of α-adducin gene is significantly associated with human hypertension. In particular, both in humans and in rats, adducin polymorphisms affect kidney function by modulating the overall capacity of tubular epithelial cells to transport ions. Conclusions: Adducin polymorphisms account for only a portion of hypertension both in humans and rats. Therefore additive or epistatic interactions with other genes involved in renal sodium handling need to be studied.

Original languageEnglish
Pages (from-to)1567-1571
Number of pages5
JournalJournal of Hypertension
Volume15
Issue number12 II
DOIs
Publication statusPublished - Dec 1997

Keywords

  • Cytoskeleton
  • Genetic
  • Renal function
  • Sodium
  • Sodium transports

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology

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