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  • 1
    Electronic Resource
    Electronic Resource
    Clinical and Electrophysiological Characteristics of Brugada Syndrome Caused by a Missense Mutation in the S5-Pore Site of SCN5A (2005)
    350 Main Street , Malden , MA 02148-5018 , USA , and 9600 Garsington Road , Oxford OX4 2DQ , UK . : Blackwell Science Inc
    Journal of cardiovascular electrophysiology 16 (2005), S. 0 
    Details
    ISSN: 1540-8167
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Brugada syndrome is an inherited cardiac disorder caused by mutations in the SCN5A gene encoding the cardiac sodium channel α-subunit, and potentially leads to ventricular fibrillation and sudden death. We report a case of a novel SCN5A mutation associated with Brugada syndrome. A 51-year-old man suffered from recurrent nocturnal syncopal attacks due to polymorphic ventricular tachycardia. His electrocardiogram showed ST-segment elevation in V1–V3 leads, but there was no evidence of structural heart disease. DNA sequence analysis of SCN5A in this patient revealed a missense mutation (R282H) in the S5-pore region of domain I. This mutational change was not present in 100 healthy Japanese controls. In the patient's family, a 36-year-old brother had died suddenly. Genetic analysis identified two other carriers of the R282H mutation, who had ST-segment elevation and slightly increased QRS widths, but they experienced no syncopal episodes or ventricular fibrillation. Electrophysiological investigation of the R282H mutant channel expressed in cultured cells showed a severe reduction in sodium current density and a mild positive shift of activation curve. R282H did not enhance intermediate inactivation. Single-channel conductance of R282H was slightly decreased compared with WT. The electrophysiological characteristics of the R282H channel are suggested to be closely related to the clinical phenotype of Brugada syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1540-8167.2005.40606.x
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  • 2
    Electronic Resource
    Electronic Resource
    A Novel Missense Mutation in the SCN5A Gene Associated with Brugada Syndrome Bidirectionally Affecting Blocking Actions of Antiarrhythmic Drugs (2005)
    350 Main Street , Malden , MA 02148-5018 , USA , and 9600 Garsington Road , Oxford OX4 2DQ , UK . : Blackwell Science Inc
    Journal of cardiovascular electrophysiology 16 (2005), S. 0 
    Details
    ISSN: 1540-8167
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Brugada syndrome is an inherited cardiac disorder caused by mutations in the SCN5A gene encoding the cardiac sodium channel α subunit, which can lead ventricular fibrillation and sudden death. Inattentive use of antiarrhythmic drugs potentially triggers fatal cardiac arrhythmias through further reduction of sodium current (INa). We studied the molecular mechanism underlying a case of Brugada syndrome that showed no response to a class Ic antiarrhythmic drug. Molecular genetic studies of a patient with Brugada syndrome identified a novel mutation in SCN5A, which causes substitution of serine for asparagine (N406S) in S6 of domain I (IS6). The provocation test with pilsicainide, a class Ic antiarrhythmic drug, failed to exacerbate ST-segment elevation in this case. Electrophysiological analyses of the N406S-mutant channel expressed together with the β1 subunit in HEK293 cells showed that the voltage dependence of activation was positively shifted by 16 mV and that intermediate inactivation was enhanced. Whereas tonic block by pilsicainide was not changed in the N406S channel, use-dependent block by pilsicainide was almost completely abolished, consistent with the clinical findings of the negative provocation test. In contrast, the N406S channel showed stronger use-dependent block by quinidine than the wild-type channel. We demonstrate a novel Brugada mutation N406S, which is associated with the discordant effects on blocking actions of antiarrhythmic drugs as well as the multiple channel gating defects. We emphasis that an antiarrhythmic drug may exert unpredicted effects in patients with channel mutations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1540-8167.2005.40711.x
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  • 3
    Electronic Resource
    Electronic Resource
    Dynorphins directly inhibit neuronal nicotinic acetylcholine receptors in PC12 cells (2000)
    Oxford, UK : Blackwell Science Ltd
    European journal of neuroscience 12 (2000), S. 0 
    Details
    ISSN: 1460-9568
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: The authors have previously reported that dynorphin A (1–17), an endogenous kappa opioid agonist, inhibits the current mediated through neuronal nicotinic acetylcholine receptors (nAChRs) without the involvement of opioid receptors or G-proteins. We have further characterized this action to elucidate the mechanisms. The nicotine-induced current was studied in PC12 cells using patch-clamp techniques. In the whole-cell configuration, four kinds of dynorphins with different lengths, dynorphin A (1–17) (1–13) (2–13) and (1–8), similarly inhibited the nicotine-induced inward current at 1 μm and accelerated the current decay. The inhibition by dynorphin A (1–17) was not antagonized by the increasing concentrations of nicotine. The current–voltage relationship revealed that dynorphin's inhibition was voltage independent at the membrane potentials from −30 to −70 mV. The inhibition was not affected by pretreatment with pertussis toxin (PTX) or inclusion of staurosporine into the pipette solution. The inhibitory effect of dynorphin A (1–17) was well preserved in the outside-out patch configuration. Analysis of the nicotine-induced noise and single-channel kinetics revealed that dynorphin A(1–17) reduced open time without changing the amplitude of the unitary current. We found that the inhibitory effect on neuronal nAChRs is shared by all four dynorphins studied. The inhibition appears to be non-competitive and voltage independent. The outside-out recording together with other experiments indicated that a major part of this inhibition is not mediated through cytoplasmic messengers, but based on the direct action of dynorphins on neuronal nAChRs leading to the reduction of open time.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1460-9568.2000.00012.x
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  • 4
    Electronic Resource
    Electronic Resource
    Serum Levels of NCC-ST-439 in Dukes' C Colorectal Cancer Patients: A Preliminary Report (1999)
    Springer
    Surgery today 29 (1999), S. 91-92 
    Details
    ISSN: 1436-2813
    Keywords: Key Words: NCC-ST-439 ; colorectal carcinoma ; recurrence
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: P 〈 0.0001). In patients who had undergone a curative resection of Dukes' C colorectal cancer, the sensitivity of NCC-ST-439 in the sera for recurrent disease was 71.4% and specificity was 95.2%. The results of a preliminary study suggested NCC-ST-439 to be a novel marker for predicting recurrence after a curative resection of Dukes' C colorectal carcinoma.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s005950050365
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  • 5
    Electronic Resource
    Electronic Resource
    Serum levels of NCC-ST-439 in Dukes' C colorectal cancer patients: A preliminary report (1999)
    Springer
    Surgery today 29 (1999), S. 91-92 
    Details
    ISSN: 1436-2813
    Keywords: NCC-ST-439 ; colorectal carcinoma ; recurrence
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The serum levels of NCC-ST-439, a monoclonal antibody raised against a human gastric cancer xenograft (ST-439), were determined in 28 patients who had undergone a curative resection of Dukes' C colorectal carcinoma. The preoperative mean levels of NCC-ST-439 were 14.4 U/ml (range 1.0–280.0) and positive (〉7.0 U/ml for women under the age of 49, 〉4.5 U/ml for women over the age of 50, and ment at any age) in 6 patients. Recurrence of the disease after a curative resection was encountered in 7 patients (serum NCC-ST-439 was positive in 5 and negative in 2 patients). The positive serum NCC-ST-439 was associated with a significantly poorer disease-free survival time (P〈0.0001). In patients who had undergone a curative resection of Dukes' C colorectal cancer, the sensitivity of NCC-ST-439 in the sera for recurrent disease was 71.4% and specificity was 95.2%. The results of a preliminary study suggested NCC-ST-439 to be a novel marker for predicting recurrence after a curative resection of Dukes' C colorectal carcinoma.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02482979
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