Identification of A Novel Mutation in RYR1 Gene in Malignant Hyperthermia-Like Patient's Family Members

Tālis Kauliñš; Natālija Proñina; Henrik Rüffert; Markus Wehner; Māris Mihelsons; Oksana Osipova; Aleksejs Miščuks

doi:10.2478/v10046-008-0025-y

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Identification of A Novel Mutation in RYR1 Gene in Malignant Hyperthermia-Like Patient's Family Members

Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.

Volume 62 (2008): Issue 4-5 (October 2008)

By: Tālis Kauliñš, Natālija Proñina, Henrik Rüffert, Markus Wehner, Māris Mihelsons, Oksana Osipova and Aleksejs Miščuks

Open Access

|Nov 2008

Abstract

Malignant hyperthermia (MH) is a rare pharmacogenetic disorder with an autosomal dominant inheritance that presents as a hypermetabolic response in skeletal muscle to volatile anaesthetic (halothane, isoflurane, desflurane, sevoflurane) and the depolarising muscle relaxant succinil-choline and rarely to stresses such as vigorous exercise and heat. We investigated the relatives of an individual with suspected MH and found a novel mutation in RYR1 gene. The molecular analysis of RYR1 gene revealed a novel nucleotide substitution in exon 6 - G528T (Glu-176-Asp) in four family members of the patient. The in vitro contracture test (IVCT) according to the European Malignant Hyperthermia Group (EMHG) guidelines showed a MH susceptible phenotype in two tested family members.

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Articles in this issue

DOI: https://doi.org/10.2478/v10046-008-0025-y | Journal eISSN: 2255-890X (formerly 1407-009X) | Journal ISSN: 1407-009X

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Language: English

Page range: 156 - 161

Published on: Nov 29, 2008

Published by: Latvian Academy of Sciences

In partnership with: Paradigm Publishing Services

Keywords:

malignant hyperthermia,

mutation in RYR1 gene,

IVCT,

Related subjects:

© 2008 Tālis Kauliñš, Natālija Proñina, Henrik Rüffert, Markus Wehner, Māris Mihelsons, Oksana Osipova, Aleksejs Miščuks, published by Latvian Academy of Sciences
This work is licensed under the Creative Commons License.

Volume 62 (2008): Issue 4-5 (October 2008)