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  1. Article ; Online: Dynamitin affects cell-surface expression of voltage-gated sodium channel Nav1.5.

    Chatin, Benoît / Colombier, Pauline / Gamblin, Anne Laure / Allouis, Marie / Le Bouffant, Françoise

    The Biochemical journal

    2014  Volume 463, Issue 3, Page(s) 339–349

    Abstract: The major cardiac voltage-gated sodium channel Nav1.5 associates with proteins that regulate its biosynthesis, localization, activity and degradation. Identification of partner proteins is crucial for a better understanding of the channel regulation. ... ...

    Abstract The major cardiac voltage-gated sodium channel Nav1.5 associates with proteins that regulate its biosynthesis, localization, activity and degradation. Identification of partner proteins is crucial for a better understanding of the channel regulation. Using a yeast two-hybrid screen, we identified dynamitin as a Nav1.5-interacting protein. Dynamitin is part of the microtubule-binding multiprotein complex dynactin. When overexpressed it is a potent inhibitor of dynein/kinesin-mediated transport along the microtubules by disrupting the dynactin complex and dissociating cargoes from microtubules. The use of deletion constructs showed that the C-terminal domain of dynamitin is essential for binding to the first intracellular interdomain of Nav1.5. Co-immunoprecipitation assays confirmed the association between Nav1.5 and dynamitin in mouse heart extracts. Immunostaining experiments showed that dynamitin and Nav1.5 co-localize at intercalated discs of mouse cardiomyocytes. The whole-cell patch-clamp technique was applied to test the functional link between Nav1.5 and dynamitin. Dynamitin overexpression in HEK-293 (human embryonic kidney 293) cells expressing Nav1.5 resulted in a decrease in sodium current density in the membrane with no modification of the channel-gating properties. Biotinylation experiments produced similar information with a reduction in Nav1.5 at the cell surface when dynactin-dependent transport was inhibited. The present study strongly suggests that dynamitin is involved in the regulation of Nav1.5 cell-surface density.
    MeSH term(s) Animals ; Binding Sites ; Dynactin Complex ; HEK293 Cells ; Humans ; Mice, Inbred BALB C ; Microtubule-Associated Proteins/genetics ; Microtubule-Associated Proteins/metabolism ; Myocardium/metabolism ; Myocytes, Cardiac/metabolism ; NAV1.5 Voltage-Gated Sodium Channel/genetics ; NAV1.5 Voltage-Gated Sodium Channel/metabolism ; Protein Structure, Tertiary ; Two-Hybrid System Techniques
    Chemical Substances DCTN2 protein, human ; Dctn2 protein, mouse ; Dynactin Complex ; Microtubule-Associated Proteins ; NAV1.5 Voltage-Gated Sodium Channel ; SCN5A protein, human
    Language English
    Publishing date 2014-11-01
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2969-5
    ISSN 1470-8728 ; 0006-2936 ; 0306-3275 ; 0264-6021
    ISSN (online) 1470-8728
    ISSN 0006-2936 ; 0306-3275 ; 0264-6021
    DOI 10.1042/BJ20140604
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Unusual clinical presentation in a family with catecholaminergic polymorphic ventricular tachycardia due to a G14876A ryanodine receptor gene mutation.

    Allouis, Marie / Probst, Vincent / Jaafar, Philippe / Schott, Jean-Jacques / Le Marec, Hervé

    The American journal of cardiology

    2005  Volume 95, Issue 5, Page(s) 700–702

    Abstract: A family was identified, of whom which 11 members were carriers of the G14876A ryanodine 2 receptor mutation. All but 1 were symptomatic at the time of the study. Exercise testing showed bidirectional or polymorphic arrhythmias in 4 patients, whereas in ... ...

    Abstract A family was identified, of whom which 11 members were carriers of the G14876A ryanodine 2 receptor mutation. All but 1 were symptomatic at the time of the study. Exercise testing showed bidirectional or polymorphic arrhythmias in 4 patients, whereas in 5 patients, it showed monomorphic or rare minor polymorphic ventricular arrhythmias. Two young patients died suddenly at rest while asleep. This study demonstrates that arrhythmias occurring during exercise stress testing in patients affected by catecholaminergic polymorphic ventricular tachycardia (CPVT) could be minor even in very symptomatic patients. The diagnosis of CPVT must be considered in these patients with a familial history of typical CPVT.
    MeSH term(s) Adolescent ; Adult ; Carrier State ; Catecholamines ; Child ; Death, Sudden, Cardiac ; Electrocardiography ; Exercise Test ; Female ; Humans ; Male ; Mutation, Missense ; Pedigree ; Ryanodine Receptor Calcium Release Channel/genetics ; Tachycardia, Ventricular/genetics
    Chemical Substances Catecholamines ; Ryanodine Receptor Calcium Release Channel
    Language English
    Publishing date 2005-03-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 80014-4
    ISSN 1879-1913 ; 0002-9149
    ISSN (online) 1879-1913
    ISSN 0002-9149
    DOI 10.1016/j.amjcard.2004.10.057
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Cosegregation of the Marfan syndrome and the long QT syndrome in the same family leads to a severe cardiac phenotype.

    Probst, Vincent / Allouis, Marie / Kyndt, Florence / Lande, Gilles / Trochu, Jean-Noël / Schott, Jean-Jacques / Le Marec, Hervé

    The American journal of cardiology

    2003  Volume 91, Issue 5, Page(s) 635–637

    MeSH term(s) Abnormalities, Multiple/diagnosis ; Adolescent ; Child ; Child, Preschool ; Echocardiography, Doppler ; Electrocardiography ; Female ; Genetic Predisposition to Disease ; Humans ; Long QT Syndrome/complications ; Long QT Syndrome/diagnosis ; Long QT Syndrome/genetics ; Male ; Marfan Syndrome/complications ; Marfan Syndrome/diagnosis ; Marfan Syndrome/genetics ; Pedigree ; Phenotype ; Prognosis ; Risk Assessment ; Sampling Studies ; Severity of Illness Index
    Language English
    Publishing date 2003-03-01
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 80014-4
    ISSN 1879-1913 ; 0002-9149
    ISSN (online) 1879-1913
    ISSN 0002-9149
    DOI 10.1016/s0002-9149(02)03329-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: 14-3-3 is a regulator of the cardiac voltage-gated sodium channel Nav1.5.

    Allouis, Marie / Le Bouffant, Françoise / Wilders, Ronald / Péroz, David / Schott, Jean-Jacques / Noireaud, Jacques / Le Marec, Hervé / Mérot, Jean / Escande, Denis / Baró, Isabelle

    Circulation research

    2006  Volume 98, Issue 12, Page(s) 1538–1546

    Abstract: The voltage-sensitive Na(+) channel Na(v)1.5 plays a crucial role in generating and propagating the cardiac action potential and its dysfunction promotes cardiac arrhythmias. The channel takes part into a large molecular complex containing regulatory ... ...

    Abstract The voltage-sensitive Na(+) channel Na(v)1.5 plays a crucial role in generating and propagating the cardiac action potential and its dysfunction promotes cardiac arrhythmias. The channel takes part into a large molecular complex containing regulatory proteins. Thus, factors that modulate its biosynthesis, localization, activity, and/or degradation are of great interest from both a physiological and pathological standpoint. Using a yeast 2-hybrid screen, we unveiled a novel partner, 14-3-3eta, interacting with the Na(v)1.5 cytoplasmic I interdomain. The interaction was confirmed by coimmunoprecipitation of 14-3-3 and full-length Na(v)1.5 both in COS-7 cells expressing recombinant Na(v)1.5 and in mouse cardiac myocytes. Using immunocytochemistry, we also found that 14-3-3 and Na(v)1.5 colocalized at the intercalated discs. We tested the functional link between Na(v)1.5 and 14-3-3eta using the whole-cell patch-clamp configuration. Coexpressing Na(v)1.5, the beta1 subunit and 14-3-3eta induced a negative shift in the inactivation curve of the Na(+) current, a delayed recovery from inactivation, but no changes in the activation curve or in the current density. The negative shift was reversed, and the recovery from inactivation was normalized by overexpressing the Na(v)1.5 cytoplasmic I interdomain interacting with 14-3-3eta. Reversal was also obtained with the dominant negative R56,60A 14-3-3eta mutant, suggesting that dimerization of 14-3-3 is needed for current regulation. Computer simulations suggest that the absence of 14-3-3 could exert proarrhythmic effects on cardiac electrical restitution properties. Based on these findings, we propose that the 14-3-3 protein is a novel component of the cardiac Na(+) channel acting as a cofactor for the regulation of the cardiac Na(+) current.
    MeSH term(s) 14-3-3 Proteins/chemistry ; 14-3-3 Proteins/physiology ; Action Potentials/physiology ; Animals ; COS Cells ; Cercopithecus aethiops ; Computer Simulation ; Dimerization ; Electric Conductivity ; Electrophysiology ; Heart/physiology ; Humans ; Intracellular Membranes/metabolism ; Models, Cardiovascular ; Muscle Proteins/genetics ; Muscle Proteins/metabolism ; Muscle Proteins/physiology ; Myocardium/metabolism ; NAV1.5 Voltage-Gated Sodium Channel ; Protein Isoforms/physiology ; Protein Structure, Tertiary ; Recombinant Proteins/metabolism ; Sodium Channels/genetics ; Sodium Channels/metabolism ; Sodium Channels/physiology ; Transfection
    Chemical Substances 14-3-3 Proteins ; Muscle Proteins ; NAV1.5 Voltage-Gated Sodium Channel ; Protein Isoforms ; Recombinant Proteins ; SCN5A protein, human ; Scn5a protein, mouse ; Sodium Channels
    Language English
    Publishing date 2006-06-23
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80100-8
    ISSN 1524-4571 ; 0009-7330 ; 0931-6876
    ISSN (online) 1524-4571
    ISSN 0009-7330 ; 0931-6876
    DOI 10.1161/01.RES.0000229244.97497.2c
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation.

    Probst, Vincent / Allouis, Marie / Sacher, Frederic / Pattier, Sabine / Babuty, Dominique / Mabo, Philipe / Mansourati, Jacques / Victor, Jacques / Nguyen, Jean-Michel / Schott, Jean-Jacques / Boisseau, Pierre / Escande, Denis / Le Marec, Hervé

    Journal of cardiovascular electrophysiology

    2006  Volume 17, Issue 3, Page(s) 270–275

    Abstract: Introduction: Loss-of-function mutations in the SCN5A gene encoding the cardiac sodium channel are responsible for Brugada syndrome (BS) and also for progressive cardiac conduction disease (inherited Lenègre disease). In an attempt to clarify the ... ...

    Abstract Introduction: Loss-of-function mutations in the SCN5A gene encoding the cardiac sodium channel are responsible for Brugada syndrome (BS) and also for progressive cardiac conduction disease (inherited Lenègre disease). In an attempt to clarify the frontier between these two entities, we have characterized cardiac conduction defect and its evolution with aging in a cohort of 78 patients carrying a SCN5A mutation linked to Brugada syndrome.
    Methods and results: Families were included in the study if a SCN5A mutation was identified in a BS proband and if at least two family members were mutation carriers. Sixteen families met the study criteria, representing 78 carriers. Resting ECG showed a spontaneous BS ECG pattern in 28 of 78 (36%) gene carriers. Intraventricular conduction anomalies were identified in 59 of 78 gene carriers including complete (17) or incomplete (24) right bundle branch block, right bundle branch block plus hemiblock (6), left bundle branch block (1), hemiblock (1), and parietal block (10). PR and QRS duration were longer in the gene carrier cohort in comparison with their relatives carrying no mutation. Finally, in the gene carrier cohort conduction defect progressively aggravated with aging leading in five occasions to pacemaker implantations.
    Conclusion: The present study shows that the most common phenotype of gene carriers of a BS-type SCN5A mutation is progressive cardiac conduction defects similar to the Lenègre disease phenotype. In consequence, we propose that carriers of a SCN5A mutation need a clinical and ECG follow-up because of the risk associated with severe conduction defects.
    MeSH term(s) Adolescent ; Adult ; Disease Progression ; Electrocardiography ; Family Health ; Female ; France ; Heart Block/genetics ; Heart Block/physiopathology ; Heart Conduction System/physiopathology ; Humans ; Linear Models ; Male ; Middle Aged ; Mutation ; Pedigree ; Phenotype ; Sodium Channels/genetics ; Syndrome
    Chemical Substances Sodium Channels
    Language English
    Publishing date 2006-03
    Publishing country United States
    Document type Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
    ZDB-ID 1025989-2
    ISSN 1540-8167 ; 1045-3873
    ISSN (online) 1540-8167
    ISSN 1045-3873
    DOI 10.1111/j.1540-8167.2006.00349.x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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