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

Barlassina, Cristina1,2; Citterio, Lorena1; Bernardi, Luca1; Buzzi, Laura1; D'Amico, Marco1; Sciarrone, Teresa1; Bianchi, Giuseppe1

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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.

1Chair of Nephrology and Postgraduate School of Nephrology, University of Milan, and Division of Nephrology, Dialysis and Hypertension, S. Raffaele Hospital, Milan, Italy.

2Requests for reprints to Dr Cristina Barlassina, Division of Nephrology, Dialysis and Hypertension, S. Raffaele Hospital, Via Olgettina 60, 20132 Milan, Italy.

Sponsorship: This work was supported by SIGMA-TAU/MURST National Research Project on ‘Genetic and molecular analysis of physiologic and pathologic response of endocellular receptors’ and MURST (ex 60% 1995–1996) to C.B. and G.B.

© Lippincott-Raven Publishers.