The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
Pacemaker channel dysfunction in a patient with sinus node disease
Open accessAbstract
The cardiac pacemaker current I(f) is a major determinant of diastolic depolarization in sinus nodal cells and has a key role in heartbeat generation. Therefore, we hypothesized that some forms of "idiopathic" sinus node dysfunction (SND) are related to inherited dysfunctions of cardiac pacemaker ion channels. In a candidate gene approach, a heterozygous 1-bp deletion (1631delC) in exon 5 of the human HCN4 gene was detected in a patient with idiopathic SND. The mutant HCN4 protein (HCN4-573X) had a truncated C-terminus and lacked the cyclic nucleotide-binding domain. COS-7 cells transiently transfected with HCN4-573X cDNA indicated normal intracellular trafficking and membrane integration of HCN4-573X subunits. Patch-clamp experiments showed that HCN4-573X channels mediated I(f)-like currents that were insensitive to increased cellular cAMP levels. Coexpression experiments showed a dominant-negative effect of HCN4-573X subunits on wild-type subunits. These data indicate that the cardiac I(f) channels are functionally expressed but with altered biophysical properties. Taken together, the clinical, genetic, and in vitro data provide a likely explanation for the patient's sinus bradycardia and the chronotropic incompetence.
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Cites
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Cited by
Kusumoto, F. M., Schoenfeld, M. H., Barrett, C., Edgerton, J. R., Ellenbogen, K. A., Gold, M. R., Goldschlager, N. F., Hamilton, R. M., Joglar, J. A., Kim, R. J., et al. (2019) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2018.10.044 · Cited by 1,008
Genesis and Regulation of the Heart Automaticity
Mangoni, M. E., & Nargeot, J. (2008) · Physiological Reviews · doi:10.1152/physrev.00018.2007 · Cited by 600
Meta-analysis identifies six new susceptibility loci for atrial fibrillation
Ellinor, P. T., Lunetta, K. L., Albert, C. M., Glazer, N. L., Ritchie, M. D., Smith, A. V., Arking, D. E., Müller-Nurasyid, M., Krijthe, B. P., Lubitz, S. A., et al. (2012) · Nature Genetics · doi:10.1038/ng.2261 · Cited by 601
Kusumoto, F. M., Schoenfeld, M. H., Barrett, C., Edgerton, J. R., Ellenbogen, K. A., Gold, M. R., Goldschlager, N. F., Hamilton, R. M., Joglar, J. A., Kim, R. J., et al. (2019) · Circulation · doi:10.1161/cir.0000000000000628 · Cited by 603
The Role of the Funny Current in Pacemaker Activity
DiFrancesco, D. (2010) · Circulation Research · doi:10.1161/circresaha.109.208041 · Cited by 587
Metadata
- Authors
- Schulze-Bahr, E., Neu, A., Friederich, P., Kaupp, U. B., Breithardt, G., Pongs, O., & Isbrandt, D.
- Venue
- Journal of Clinical Investigation
- Published
- 2003-05-15
- Volume
- 111
- Issue
- 10
- Pages
- 1537-1545
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2073059074
- Cited by
- 366
- References
- 33
- FWCI
- 7.54
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Schulze-Bahr, E., Neu, A., Friederich, P., Kaupp, U. B., Breithardt, G., Pongs, O., & Isbrandt, D. (2003). Pacemaker channel dysfunction in a patient with sinus node disease. Journal of Clinical Investigation. https://doi.org/10.1172/jci16387
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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