title: A patient suffering from hypokalemic periodic paralysis is deficient in skeletal muscle ATP-sensitive K channels.
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.
authors.affiliation: Maternal and Child Health Sciences, Ninewells Hospital & Medical School, University of Dundee, Dundee, Scotland, UK.
authors.forename: Sofija
authors.initials: S
authors.lastname: Jovanović
authors.forename: Qingyou
authors.initials: Q
authors.lastname: Du
authors.forename: Somnath
authors.initials: S
authors.lastname: Mukhopadhyay
authors.forename: Robert
authors.initials: R
authors.lastname: Swingler
authors.forename: Richard
authors.initials: R
authors.lastname: Buckley
authors.forename: Jane
authors.initials: J
authors.lastname: McEachen
authors.forename: Aleksandar
authors.initials: A
authors.lastname: Jovanović
mesh_terms: D016022:Case-Control Studies; D017931:DNA Primers / Q000737:chemistry; D006801:Humans; D007008:Hypokalemia / Q000473:pathology; D020514:Hypokalemic Periodic Paralysis / Q000473:pathology*; D054086:KATP Channels / Q000172:deficiency* / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D011188:Potassium / Q000737:chemistry; D024661:Potassium Channels, Inwardly Rectifying / Q000096:biosynthesis* / Q000235:genetics; D012333:RNA, Messenger / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D000099161:Kcnj11 Channel
chemical_list: D017931:DNA Primers; D054086:KATP Channels; D011188:Potassium; D024661:Potassium Channels, Inwardly Rectifying; D012333:RNA, Messenger; D000099161:Kcnj11 Channel
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