Abstract
Background CaV1.4 L-type calcium channels show unique biophysical properties such as slow inactivation due to the lack of calcium-dependent inactivation (CDI). These properties make CaV1.4 channels appropriate candidates for triggering persistent glutamate release at retinal photoreceptor cell synapses. Mutations in the CACNA1F gene encoding for the CaV1.4 a1 subunit are described in patients with X-linked congenital stationary night blindness type 2 (CSNB2). Impaired transmission between rod photoreceptor cells and second-order neurons manifests as night blindness and various other visual symptoms in the affected individuals.
Highlights
CaV1.4 L-type calcium channels show unique biophysical properties such as slow inactivation due to the lack of calcium-dependent inactivation (CDI)
Mutations in the CACNA1F gene encoding for the CaV1.4 a1 subunit are described in patients with X-linked congenital stationary night blindness type 2 (CSNB2)
The aim of this study was to investigate the functional properties of CaV1.4 mutants L849P and R1816stop compared to wild-type (WT) in transiently transfected tsA 201 cells (+b3,+a2δ-1) via whole-cell patch clamp technique using 15 mM Ba2+ and Ca2+ as charge carrier
Summary
CaV1.4 L-type calcium channels show unique biophysical properties such as slow inactivation due to the lack of calcium-dependent inactivation (CDI). Biophysical characterization of CaV1.4 L-type calcium channel mutants causing congenital stationary night blindness type 2 in humans From 18th Scientific Symposium of the Austrian Pharmacological Society (APHAR).
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