Rescue of a nephrogenic diabetes insipidus-causing vasopressin V2 receptor mutant by cell-penetrating peptides

J Biol Chem. 2007 Jul 13;282(28):20676-85. doi: 10.1074/jbc.M611530200. Epub 2007 May 8.

Abstract

Mutant membrane proteins are frequently retained in the early secretory pathway by a quality control system, thereby causing disease. An example are mutants of the vasopressin V(2) receptor (V(2)R) leading to nephrogenic diabetes insipidus. Transport-defective V(2)Rs fall into two classes: those retained exclusively in the endoplasmic reticulum (ER) and those reaching post-ER compartments such as the ER/Golgi intermediate compartment. Although numerous chemical or pharmacological chaperones that rescue the transport of ER-retained membrane proteins are known, substances acting specifically in post-ER compartments have not been described as yet. Using the L62P (ER-retained) and Y205C (reaching post-ER compartments) mutants of the V(2)R as a model, we show here that the cell-penetrating peptide penetratin and its synthetic analog KLAL rescue the transport of the Y205C mutant. In contrast, the location of the L62P mutant is not influenced by either peptide because the peptides are unable to enter the ER. We also show data indicating that the peptide-mediated transport rescue is associated with an increase in cytosolic Ca(2+) concentrations. Thus, we describe a new class of substances influencing protein transport specifically in post-ER compartments.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Calcium / metabolism
  • Calcium Signaling / drug effects*
  • Calcium Signaling / genetics
  • Carrier Proteins / pharmacology*
  • Carrier Proteins / therapeutic use
  • Cell Line
  • Cell-Penetrating Peptides
  • Diabetes Insipidus, Nephrogenic / drug therapy
  • Diabetes Insipidus, Nephrogenic / genetics
  • Diabetes Insipidus, Nephrogenic / metabolism*
  • Diabetes Insipidus, Nephrogenic / pathology
  • Endoplasmic Reticulum / genetics
  • Endoplasmic Reticulum / metabolism*
  • Golgi Apparatus / genetics
  • Golgi Apparatus / metabolism*
  • Humans
  • Molecular Chaperones / metabolism
  • Mutation, Missense
  • Protein Transport / drug effects
  • Protein Transport / genetics
  • Receptors, Vasopressin / genetics
  • Receptors, Vasopressin / metabolism*

Substances

  • Carrier Proteins
  • Cell-Penetrating Peptides
  • Molecular Chaperones
  • Receptors, Vasopressin
  • penetratin
  • Calcium