Molecular basis of malignant hyperthermia

• Autorzy: Gronek P , Slomski R
• Języki publikacji: EN

Abstrakty

EN

Malignant hyperthermia (MH) is a clinical syndrome in which genetically susceptible individuals respond to the administration of potent inhalation anaesthetics and depolarization skeletal muscle relaxants with skeletal rigidity, unstable blood pressure, tachycardia, arrhythmias, hyperventilation, hypoxia, lactic and respiratory acidosis and high fever. In studies of the genetic basis of MH, a mutation was identified in the porcine (C1843T) and human (C1840T) skeletal muscle ryanodine receptor (RYR1) gene. This gene is mapped on human chromosome 19q13.1. The RYR1 gene contains 106 exons, of which two arc alternatively spliced.

Słowa kluczowe

EN

calcium release; ryanodine receptor; depolarization; polymorphism; ryanodine gene; chromosome; metabolism; man; clinical syndrome; central core disease; phenotypic effect; malignant hyperthermia; anesthesia; skeletal muscle

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 1997
• Tom: 38
• Numer: 3
• Opis fizyczny: p.309-317

Twórcy

autor

Gronek P

• Department of Pig Breeding and Production, August Cieszkowski Agricultural University, Wolynska 33, 60-637 Poznan, Poland

autor

Slomski R

• Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland
• Department of Biochemistry and Biotechnology, August Cieszkowski Agricultural University, Poznań, Poland

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