A patient suffering from hypokalemic periodic paralysis is deficient in skeletal muscle ATP-sensitive K channels

Clin Transl Sci. 2008 May;1(1):71-4. doi: 10.1111/j.1752-8062.2008.00007.x.

Abstract

Hypokalemic periodic paralysis (HOPP) is a rare disease associated with attacks of muscle weakness and hypokalemia. In the present study, immunoprecipitation/Western blotting has shown that a HOPP patient was deficient in sarcolemmal K(ATP) channels. Real-time RT-PCR has revealed that HOPP has decreased mRNA levels of Kir6.2, a pore-forming K(ATP) channel subunit, without affecting the expression of other K(ATP) channel-forming proteins. Based on these findings, we conclude that HOPP could be associated with impaired expression of Kir6.2 which leads to deficiency in skeletal muscle K(ATP) channels, which may explain the symptoms and clinical signs of this disease.

Keywords: KATP channels; Kir6.2; hypokalemic periodic paralysis; skeletal muscle.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • DNA Primers / chemistry
  • Humans
  • Hypokalemia / pathology
  • Hypokalemic Periodic Paralysis / pathology*
  • KATP Channels / deficiency*
  • KATP Channels / metabolism*
  • Male
  • Middle Aged
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology*
  • Potassium / chemistry
  • Potassium Channels, Inwardly Rectifying / biosynthesis*
  • Potassium Channels, Inwardly Rectifying / genetics
  • RNA, Messenger / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • DNA Primers
  • KATP Channels
  • Kir6.2 channel
  • Potassium Channels, Inwardly Rectifying
  • RNA, Messenger
  • Potassium