Proteomics

Dataset Information

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Endo_ASPHvariants_APMS_P124_6600


ABSTRACT: This dataset consists of 10 raw MS files and associated peak lists and results files, acquired on AB Sciex TripleTOF 6600 mass spectrometer operated in Data Dependent Acquisition mode. Samples were generated by Yukari Endo. Mass spectrometry acquisition and data analysis was performed by Cassandra Wong. The files are associated with a manuscript submitted for publication by Yukari Endo et al. The main goal of this paper was to identify new genetic variants that predisposed individuals to exertional heat illness (EHI) and malignant hyperthermia (MH), both which are life threatening conditions. James J. Dowling is the corresponding author of the manuscript (james.dowling@sickkids.ca); Karen Colwill should be contacted for questions on this dataset (colwill@lunenfeld.ca) This submission is associated with 3 Supplementary Files (in addition to this README file) Table 1 describes the composition of this dataset Table 2 lists all the peptide identification evidence (as per iProphet) Table 3 lists the SAINTexpress interactions

INSTRUMENT(S): TripleTOF 6600

ORGANISM(S): Danio Rerio (ncbitaxon:7955) Homo Sapiens (ncbitaxon:9606)

SUBMITTER: Karen Colwill  

PROVIDER: MSV000089417 | MassIVE | Wed May 04 08:23:00 BST 2022

SECONDARY ACCESSION(S): PXD033578

REPOSITORIES: MassIVE

Dataset's files

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Publications

Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility.

Endo Yukari Y   Groom Linda L   Celik Alper A   Kraeva Natalia N   Lee Chang Seok CS   Jung Sung Yun SY   Gardner Lois L   Shaw Marie-Anne MA   Hamilton Susan L SL   Hopkins Philip M PM   Dirksen Robert T RT   Riazi Sheila S   Dowling James J JJ  

Nature communications 20220613 1


Exertional heat illness (EHI) and malignant hyperthermia (MH) are life threatening conditions associated with muscle breakdown in the setting of triggering factors including volatile anesthetics, exercise, and high environmental temperature. To identify new genetic variants that predispose to EHI and/or MH, we performed genomic sequencing on a cohort with EHI/MH and/or abnormal caffeine-halothane contracture test. In five individuals, we identified rare, pathogenic heterozygous variants in ASPH,  ...[more]

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