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- W2084523291 abstract "Malignant Hyperthermia Susceptibility, MHS, is a hereditary sub-clinical condition characterized by events of uncontrolled release of calcium, deadly if untreated. 60% of MHS cases are due to mutations of the RyR1 Ca release channel. A puzzling property of these mutations is their phenotypic variability. We are comparing Ca signals in cells from MHS patients with those from normal donors. Every subject is genotyped for the proteins of interest. Gracilis muscle biopsies taken in Toronto from at risk patients, are received in Chicago overnight and studied acutely with 2-silicone gap voltage clamp, or used to generate cultures (technique by S Treves, Basel). Myotubes are imaged for [Ca2+]cyto (with fluo-4) and Vm (with di-8-ANEPPS). In response to brief field stimuli, cells from healthy subjects had normal action potentials (t ∼10 ms) and a monophasic Ca transient, rarely followed by a slow wave. Cells from a patient with the MH-linked mutation G341R always had a 2-phase response --a small initial transient followed by a large propagated wave. Cells from two MHS patients with normal genotype (who were positive for one of 2 standard MH tests) had responses with intermediate features. Using pharmacology and photorelease of Ca2+ and IP3, we are testing various mechanisms that could be altered, including gating control of RyRs as well as IP3 receptor channels, which contribute to slow transients in myotubes (e.g. Casas et al., 2010). Given the variety of phenotypes and genotypes available, these approaches should allow the characterization of cellular signaling defects in multiple mutations, linked to MH and other muscle diseases. The comparison should increase our understanding of disease mechanisms as well as our insight on structure-function relationships of the RyR channel. Funded by NIAMS/NIH and A.H.A." @default.
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- W2084523291 date "2014-01-01" @default.
- W2084523291 modified "2023-09-27" @default.
- W2084523291 title "Calcium Signaling in Muscle Cells from a Patient Cohort with Inheritable Muscle Diseases" @default.
- W2084523291 doi "https://doi.org/10.1016/j.bpj.2013.11.1844" @default.
- W2084523291 hasPublicationYear "2014" @default.
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