The Novel cAMP-Insensitive HCN4-695X Mutation is Associated with Marked Sinus Bradycardia but Regular Autonomic Rate Control
نویسندگان
چکیده
منابع مشابه
Hantavirus Infection with Marked Sinus Bradycardia, Taiwan
To the Editor: Hantaviruses are enveloped RNA viruses belonging to the family Bunyaviridae (1,2), for which a number of species have been identified, including the Hantaan, Seoul, Puumala, Dobrava-Belgrade, and Sin Nombre viruses (1,2). Each hantavirus is associated with a specific rodent reservoir (1,2). Hantaan virus, found throughout northeastern Asia, causes a life-threatening illness known...
متن کاملThe HCN4 channel mutation D553N associated with bradycardia has a C-linker mediated gating defect.
BACKGROUND/AIMS The D553N mutation located in the C-linker of the cardiac pacemaker channel HCN4 is thought to cause sino-atrial dysfunction via a pronounced dominant-negative trafficking defect. Since HCN4 mutations usually have a minor defect in channel gating, it was our aim to further characterize the disease causing mechanism of D553N. METHODS Fluorescence microscopy, FACS, TEVC and patc...
متن کاملFamilial sinus bradycardia associated with a mutation in the cardiac pacemaker channel.
We found that sinus bradycardia in members of a large family was associated with a mutation in the gene coding for the pacemaker HCN4 ion channel. Pacemaker channels of the sinoatrial node generate spontaneous activity and mediate cyclic AMP (cAMP)-dependent autonomic modulation of the heart rate. The mutation associated with bradycardia is located near the cAMP-binding site; functional analysi...
متن کاملPoint mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardia.
BACKGROUND The hyperpolarization-activated nucleotide-gated channel--HCN4 plays a major role in the diastolic depolarization of sinus atrial node cells. Mutant HCN4 channels have been found to be associated with inherited sinus bradycardia. METHODS AND RESULTS Sixteen members of a family with sinus bradycardia were evaluated. Evaluation included a clinical questionnaire, 12-lead ECGs, Holter ...
متن کاملcAMP sensitivity of HCN pacemaker channels determines basal heart rate but is not critical for autonomic rate control.
BACKGROUND HCN channels activate the pacemaker current I(f), which is thought to contribute significantly to generation and regulation of heart rhythm. HCN4 represents the dominant isotype in the sinoatrial node and binding of cAMP was suggested to be necessary for autonomic heart rate regulation. METHODS AND RESULTS In a candidate gene approach, a heterozygous insertion of 13 nucleotides in ...
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ژورنال
عنوان ژورنال: Biophysical Journal
سال: 2011
ISSN: 0006-3495
DOI: 10.1016/j.bpj.2010.12.779