L-type Ca2+ channels in Ca2+ channelopathies.
Voltage-gated L-type Ca2+ channels (LTCCs) mediate depolarization-induced Ca2+ entry in electrically excitable cells, including muscle cells, neurons, and endocrine and sensory cells. In this review we summarize the role of LTCCs for human diseases caused by genetic Ca2+ channel defects (channelopathies). LTCC dysfunction can result from structural aberrations within pore-forming alpha1 subunits causing incomplete congenital stationary night blindness, malignant hyperthermia sensitivity or hypokalemic periodic paralysis. However, studies in mice revealed that LTCC dysfunction also contributes to neurological symptoms in Ca2+ channelopathies affecting non-LTCCs, such as Ca(v)2.1 alpha1 in tottering mice. Ca2+ channelopathies provide exciting molecular tools to elucidate the contribution of different LTCC isoforms to human diseases.
Striessnig
Jörg
J
Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck, Peter-Mayr-Strasse 1, A-6020 Innsbruck, Austria. joerg.striessnig@uibk.ac.at
Hoda
Jean-Charles
JC
Koschak
Alexandra
A
Zaghetto
Francesca
F
Müllner
Carmen
C
Sinnegger-Brauns
Martina J
MJ
Wild
Claudia
C
Watschinger
Katrin
K
Trockenbacher
Alexander
A
Pelster
Gilda
G
D000818:Animals; D020746:Calcium Channels, L-Type / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D008305:Malignant Hyperthermia / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D051379:Mice; D009755:Night Blindness / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology
D020746:Calcium Channels, L-Type