Blog
About

44
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      Human hypertension caused by mutations in WNK kinases.

      Science (New York, N.Y.)

      Amino Acid Sequence, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 12, genetics, Chromosomes, Human, Pair 17, Cytoplasm, enzymology, Female, Gene Expression Regulation, Enzymologic, Genetic Linkage, Humans, Hypertension, physiopathology, Intercellular Junctions, Intracellular Signaling Peptides and Proteins, Introns, Kidney Tubules, Collecting, ultrastructure, Kidney Tubules, Distal, Male, Membrane Proteins, metabolism, Microscopy, Fluorescence, Molecular Sequence Data, Mutation, Mutation, Missense, Pedigree, Phosphoproteins, Protein-Serine-Threonine Kinases, chemistry, Pseudohypoaldosteronism, Sequence Deletion, Signal Transduction, Zonula Occludens-1 Protein

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          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.

          Related collections

          Author and article information

          Journal
          11498583
          10.1126/science.1062844

          Comments

          Comment on this article