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Journal: A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response. (Pubmed Central) - Jul 4, 2021
We report a novel RYR2 variant, p.Asp3291Val, outside the four CPVT mutation hotspots, in three CPVT families with numerous sudden deaths...Functional analysis of D3291V channels revealed a normal response to cytosolic Ca, a markedly reduced luminal Ca sensitivity and, more importantly, an absence of normal response to 8-bromo-cAMP and forskolin stimulation in both transfected HEK293 and HL-1 cells. Our data support that the D3291V-RyR2 is a loss-of-function RyR2 variant responsible for an atypical form of CPVT inducing a mild dysfunction in basal conditions but leading potentially to fatal events through its unresponsiveness to adrenergic stimulation.
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Trial completion: Safety, Efficacy, and Tolerability Study of ASP3291 in Patients With Active Ulcerative Colitis (clinicaltrials.gov) - Jun 26, 2014
P2, N=112, Completed,
Our data support that the D3291V-RyR2 is a loss-of-function RyR2 variant responsible for an atypical form of CPVT inducing a mild dysfunction in basal conditions but leading potentially to fatal events through its unresponsiveness to adrenergic stimulation. Active, not recruiting --> Completed
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