Evidence for genetic heterogeneity in malignant hyperthermia susceptibility

Roy 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 Citations (Scopus)

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
Pages (from-to)543-547
Number of pages5
JournalGenomics
Volume11
Issue number3
DOIs
StatePublished - Jan 1 1991
Externally publishedYes

Fingerprint

Malignant Hyperthermia
Genetic Heterogeneity
Neuromuscular Depolarizing Agents
Muscle Rigidity
Neuromuscular Blocking Agents
Inhalation Anesthetics
Inborn Genetic Diseases
Genetic Loci
Body Temperature Regulation
Pharmacogenetics
Cause of Death
Fever
Anesthesia
Chromosomes
Phenotype
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Levitt, R. C., Nouri, N., Jedlicka, A. E., McKusick, V. A., Marks, A. R., Shutack, J. G., ... 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

Evidence for genetic heterogeneity in malignant hyperthermia susceptibility. / Levitt, Roy C; Nouri, N.; Jedlicka, A. E.; McKusick, V. A.; Marks, A. R.; Shutack, J. G.; Fletcher, J. E.; Rosenberg, H.; Meyers, D. A.

In: Genomics, Vol. 11, No. 3, 01.01.1991, p. 543-547.

Research output: Contribution to journalArticle

Levitt, RC, Nouri, N, Jedlicka, AE, McKusick, VA, Marks, AR, Shutack, JG, Fletcher, JE, Rosenberg, H & Meyers, DA 1991, 'Evidence for genetic heterogeneity in malignant hyperthermia susceptibility', Genomics, vol. 11, no. 3, pp. 543-547. https://doi.org/10.1016/0888-7543(91)90061-I
Levitt RC, Nouri N, Jedlicka AE, McKusick VA, Marks AR, Shutack JG et al. Evidence for genetic heterogeneity in malignant hyperthermia susceptibility. Genomics. 1991 Jan 1;11(3):543-547. https://doi.org/10.1016/0888-7543(91)90061-I
Levitt, Roy C ; Nouri, N. ; Jedlicka, A. E. ; McKusick, V. A. ; Marks, A. R. ; Shutack, J. G. ; Fletcher, J. E. ; Rosenberg, H. ; Meyers, D. A. / Evidence for genetic heterogeneity in malignant hyperthermia susceptibility. In: Genomics. 1991 ; Vol. 11, No. 3. pp. 543-547.
@article{69139d765256468cb55b88b5478cbd53,
title = "Evidence for genetic heterogeneity in malignant hyperthermia susceptibility",
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.",
author = "Levitt, {Roy C} and N. Nouri and Jedlicka, {A. E.} and McKusick, {V. A.} and Marks, {A. R.} and Shutack, {J. G.} and Fletcher, {J. E.} and H. Rosenberg and Meyers, {D. A.}",
year = "1991",
month = "1",
day = "1",
doi = "10.1016/0888-7543(91)90061-I",
language = "English",
volume = "11",
pages = "543--547",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press Inc.",
number = "3",

}

TY - JOUR

T1 - Evidence for genetic heterogeneity in malignant hyperthermia susceptibility

AU - Levitt, Roy C

AU - Nouri, N.

AU - Jedlicka, A. E.

AU - McKusick, V. A.

AU - Marks, A. R.

AU - Shutack, J. G.

AU - Fletcher, J. E.

AU - Rosenberg, H.

AU - Meyers, D. A.

PY - 1991/1/1

Y1 - 1991/1/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0026094532&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026094532&partnerID=8YFLogxK

U2 - 10.1016/0888-7543(91)90061-I

DO - 10.1016/0888-7543(91)90061-I

M3 - Article

VL - 11

SP - 543

EP - 547

JO - Genomics

JF - Genomics

SN - 0888-7543

IS - 3

ER -