L-type Ca2+ channels in Ca2+ channelopathies.

Abstract

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.

• Authors: Jörg Striessnig, Jean-Charles Hoda, Alexandra Koschak, Francesca Zaghetto, Carmen Müllner, Martina J Sinnegger-Brauns, Claudia Wild, Katrin Watschinger, Alexander Trockenbacher, Gilda Pelster
• Journal: Biochemical and biophysical research communications (Biochem Biophys Res Commun) Vol. 322 Issue 4 Pg. 1341-6 (Oct 01 2004) ISSN: 0006-291X [Print] United States
• PMID: 15336981 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: Copyright 2004 Elsevier Inc.

Chemical References

• Calcium Channels, L-Type

Topics

• Animals
• Calcium Channels, L-Type (chemistry, genetics, metabolism)
• Humans
• Hypokalemic Periodic Paralysis (genetics, metabolism, physiopathology)
• Malignant Hyperthermia (genetics, metabolism, physiopathology)
• Mice
• Night Blindness (genetics, metabolism, physiopathology)