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Human hypertension caused by mutations in WNK kinases #MMPMID11498583
Wilson FH; Disse-Nicodeme S; Choate KA; Ishikawa K; Nelson-Williams C; Desitter I; Gunel M; Milford DV; Lipkin GW; Achard JM; Feely MP; Dussol B; Berland Y; Unwin RJ; Mayan H; Simon DB; Farfel Z; Jeunemaitre X; Lifton RP
Science 2001[Aug]; 293 (5532): 1107-12 PMID11498583show ga
Hypertension is a major public health problem of largely unknown cause. Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait featuring hypertension, increased renal salt reabsorption, and impaired K+ and H+ excretion. Both genes encode members of the WNK family of serine-threonine kinases. Disease-causing mutations in WNK1 are large intronic deletions that increase WNK1 expression. The mutations in WNK4 are missense, which cluster in a short, highly conserved segment of the encoded protein. Both proteins localize to the distal nephron, a kidney segment involved in salt, K+, and pH homeostasis. WNK1 is cytoplasmic, whereas WNK4 localizes to tight junctions. The WNK kinases and their associated signaling pathway(s) may offer new targets for the development of antihypertensive drugs.