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Hypertension caused by a truncated epithelial sodium channel γ subunit: genetic heterogeneity of Liddle syndrome


Sensitivity of blood pressure to dietary salt is a common feature in subjects with hypertension. These features are exemplified by the mendelian disorder, Liddle's syndrome, previously shown to arise from constitutive activation of the renal epithelial sodium channel due to mutation in the β subunit of this channel. We now demonstrate that this disease can also result from a mutation truncating the carboxy terminus of the γ subunit of this channel; this truncated subunit also activates channel activity. These findings demonstrate genetic heterogeneity of Liddle's syndrome, indicate independent roles of β and γ subunits in the negative regulation of channel activity, and identify a new gene in which mutation causes a salt–sensitive form of human hypertension.

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Hansson, J., Nelson-Williams, C., Suzuki, H. et al. Hypertension caused by a truncated epithelial sodium channel γ subunit: genetic heterogeneity of Liddle syndrome. Nat Genet 11, 76–82 (1995).

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