Evidence for genetic heterogeneity in malignant hyperthermia susceptibility

R. C. Levitt, N. Nouri, A. E. Jedlicka, V. A. McKusick, A. R. Marks, J. G. Shutack, J. E. Fletcher, H. Rosenberg, D. A. Meyers

Research output: Contribution to journalArticle

82 Scopus citations

Abstract

Malignant hyperthermia susceptibility (MHS) is a clinically heterogeneous pharmacogenetic disorder characterized by accelerated metabolism, hyperthermia, and frequently muscle rigidity. MHS is elicited by all commonly used potent inhalation anesthetics and depolarizing neuromuscular blockers and remains an important cause of death due to anesthesia. Recent linkage studies suggest a single genetic locus for this disorder on chromosome 19q13.1. The results of our linkage analyses exclude several loci on 19q13.1 as a site for the gene(s) that produces the MHS phenotype in three unrelated families and clearly established genetic heterogeneity in this disorder. These results are consistent with the hypothesis that the genetic defect that alters thermoregulation may vary in MHS and that clinical variability in the expression of MHS may be explained by genetic heterogeneity.

Original languageEnglish (US)
Pages (from-to)543-547
Number of pages5
JournalGenomics
Volume11
Issue number3
DOIs
StatePublished - Nov 1991
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

Fingerprint Dive into the research topics of 'Evidence for genetic heterogeneity in malignant hyperthermia susceptibility'. Together they form a unique fingerprint.

  • Cite this

    Levitt, R. C., Nouri, N., Jedlicka, A. E., McKusick, V. A., Marks, A. R., Shutack, J. G., Fletcher, J. E., Rosenberg, H., & Meyers, D. A. (1991). Evidence for genetic heterogeneity in malignant hyperthermia susceptibility. Genomics, 11(3), 543-547. https://doi.org/10.1016/0888-7543(91)90061-I