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Ca 2+ Release channels of pigs heterozygous for malignant hyperthermia
Author(s) -
Shomer Nirah H.,
Mickelson James R.,
Louis Charles F.
Publication year - 1995
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880181013
Subject(s) - malignant hyperthermia , heterozygote advantage , endoplasmic reticulum , mutation , population , vesicle , biology , compound heterozygosity , microbiology and biotechnology , biophysics , chemistry , endocrinology , genetics , gene , genotype , pathology , medicine , membrane , environmental health
Porcine malignant hyperthermia (MH) is an autosomal recessive disorder resulting from a mutation in the skeletal muscle sarcoplasmic reticulum (SR) Ca 2+ release channel. The Ca 2+ release properties of SR vesicles isolated from pigs heterozygous for the MH gene have been demonstrated previously to be intermediate to those of vesicles isolated from MH‐susceptible (MHS) and normal pigs. The Ca 2+ release channel is tetrameric, so the intermediate Ca 2+ release properties of heterozygous pig SR preparations could result either from populations of MHS and normal homotetramers, or populations of heterotetrameric Ca 2+ release channels with properties unique from those of the two types of homozygous channels. To discriminate between these possibilities, the single channel percent open time (P o ) and channel dwell time distributions of SR Ca 2+ release channels were analyzed. These data suggest that the heterozygous porcine Ca 2+ release channel population must contain heterotetramers with properties distinct from those of either MHS or normal channels. The data also imply that the Ca 2+ release channel population in MHS humans who are heterozygous for a dominant mutation in this protein also contains heterotetrameric channels.© 1995 John Wiley & Sons, Inc.