Genetics of Malignant Hyperthermia | Zendy

Barbara W. Brandom | Zendy

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Genetics of Malignant Hyperthermia

Author(s) -

Barbara W. Brandom

Publication year - 2006

Publication title -

the scientific world journal

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.453

H-Index - 93

eISSN - 2356-6140

pISSN - 1537-744X

DOI - 10.1100/tsw.2006.289

Subject(s) - ryr1 , malignant hyperthermia , phenotype , genetics , gene , biology , chromosome , candidate gene , genetic linkage , ryanodine receptor , medicine , pathology , receptor

Study of the genetics of the malignant hyperthermia syndrome began in families in which both malignant hyperthermia (MH) episodes had been experienced and individuals had strongly positive contracture tests diagnostic of susceptibility to MH. Linkage studies associated this MH phenotype to the ryanodine receptor gene (RYR1) at chromosome 19q13.1 in many families. Although the MH phenotype is not always linked to chromosome 19, the RYR1 has remained the focus of experimentation. Other candidate genes exist, but few MH-susceptible families have variants of these genes. Hundreds of MH-susceptible people have variants of RYR1.

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