Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations
نویسندگان
چکیده
منابع مشابه
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
Timothy syndrome (TS) is a multisystem disorder that causes syncope and sudden death from cardiac arrhythmias. Prominent features include congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities, and autism. All TS individuals have syndactyly (webbing of fingers and toes). We discovered that TS resulted from a recurrent, de novo cardiac L-type calcium chan...
متن کاملCardiac L-type calcium channel (Cav1.2) associates with subunits
The cardiac voltage-gated Ca channel, Cav1.2, mediates excitation-contraction coupling in the heart. The molecular composition of the channel includes the pore-forming 1 subunit and auxiliary 2/ -1 and subunits. Ca channel subunits, of which there are 8 isoforms, consist of 4 transmembrane domains with intracellular Nand C-terminal ends. The 1 subunit was initially detected in the skeletal musc...
متن کاملThe cardiac L-type calcium channel distal carboxy terminus autoinhibition is regulated by calcium.
The L-type calcium channel (LTCC) provides trigger Ca(2+) for sarcoplasmic reticulum Ca-release, and LTCC function is influenced by interacting proteins including the LTCC distal COOH terminus (DCT) and calmodulin. DCT is proteolytically cleaved and reassociates with the LTCC complex to regulate calcium channel function. DCT reduces LTCC barium current (I(Ba,L)) in reconstituted channel complex...
متن کاملInactivation of L-type calcium channel modulated by HCN2 channel.
Ca(2+) entry is delicately controlled by inactivation of L-type calcium channel (LTCC) composed of the pore-forming subunit alpha1C and the auxiliary subunits beta1 and alpha2delta. Calmodulin is the key protein that interacts with the COOH-terminal motifs of alpha1C, leading to the fine control of LTCC inactivation. In this study we show evidence that a hyperpolarization-activated cyclic nucle...
متن کاملMutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.
BACKGROUND L-type calcium channel (LTCC) mutations have been associated with Brugada syndrome (BrS), short QT (SQT) syndrome, and Timothy syndrome (LQT8). Little is known about the extent to which LTCC mutations contribute to the J-wave syndromes associated with sudden cardiac death. OBJECTIVE The purpose of this study was to identify mutations in the α1, β2, and α2δ subunits of LTCC (Ca(v)1....
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 2005
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.0502506102