A Connexin40 Mutation Associated With a Malignant Variant of Progressive Familial Heart Block Type I
| العنوان: | A Connexin40 Mutation Associated With a Malignant Variant of Progressive Familial Heart Block Type I |
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| المؤلفون: | Naokata Sumitomo, Halina Chkourko, Can Hasdemir, Shigetomo Fukuhara, Jean-Jacques Schott, Hiroshi Watanabe, Minoru Horie, Takeru Makiyama, Wataru Shimizu, Naomasa Makita, Nobuhisa Hagiwara, Alban Baruteau, Hideo Mugishima, Akiko Seki, Mario Delmar, Vincent Probst, Arthur A.M. Wilde, Estelle Baron, Dan M. Roden, Hervé Le Marec, Connie R. Bezzina, Naoki Mochizuki |
| المساهمون: | ACS - Amsterdam Cardiovascular Sciences, Cardiology, Ege Üniversitesi |
| المصدر: | Circulation. Arrhythmia and electrophysiology, 5(1), 163-U274. Lippincott Williams and Wilkins |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Male, Bundle of His, Heart block, Blotting, Western, Connexin, Biology, medicine.disease_cause, Polymerase Chain Reaction, Connexins, Article, Germline, Electrocardiography, Death sudden, Germline mutation, Cardiac Conduction System Disease, Heart Rate, Physiology (medical), medicine, Humans, Genetic Predisposition to Disease, Child, Ion channel, Gap junctions, Mutation, Sodium channel, Gap junction, DNA, Prognosis, medicine.disease, Immunohistochemistry, Molecular biology, Pedigree, Genes, Ion channels, Female, Electrophysiologic Techniques, Cardiac, Cardiology and Cardiovascular Medicine, Biomarkers |
| الوصف: | WOS: 000300613000026 PubMed ID: 22247482 Background-Progressive familial heart block type I (PFHBI) is a hereditary arrhythmia characterized by progressive conduction disturbances in the His-Purkinje system. PFHBI has been linked to genes such as SCN5A that influence cardiac excitability but not to genes that influence cell-to-cell communication. Our goal was to explore whether nucleotide substitutions in genes coding for connexin proteins would associate with clinical cases of PFHBI and if so, to establish a genotype-cell phenotype correlation for that mutation. Methods and Results-We screened 156 probands with PFHBI. In addition to 12 sodium channel mutations, we found a germ line GJA5 (connexin40 [Cx40]) mutation (Q58L) in 1 family. Heterologous expression of Cx40-Q58L in connexin-deficient neuroblastoma cells resulted in marked reduction of junctional conductance (Cx40-wild type [WT], 22.2 +/- 1.7 nS, n = 14; Cx40-Q58L, 0.56 +/- 0.34 nS, n = 14; P Ministry of Education, Culture, Sports, Science and Technology, JapanMinistry of Education, Culture, Sports, Science and Technology, Japan (MEXT) [21590921, 22136007]; Ministry of HealthMinistry of Health - Turkey [2010-145]; Mitsubishi Pharma Research Foundation; Japan-France Integrated Action Program (SAKURA); Naito FoundationNaito Memorial Foundation; Support Center for Women Health Care Professionals and Researchers [21590921]; National Institutes of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [GM057691, HL106632, HL087226] This work was supported by research grant 21590921 (to Dr Makita), Scientific Research B (to Dr Mochizuki), and Grant-in-Aid for Scientific Research on Innovative Areas (HD Physiology) 22136007 (to Dr Makita) from the Ministry of Education, Culture, Sports, Science and Technology, Japan; a Health and Labor Sciences Research Grant for research on measures for intractable diseases from the Ministry of Health (2010-145) (to Dr Makita); the Mitsubishi Pharma Research Foundation (to Dr Makita); the Japan-France Integrated Action Program (SAKURA) (to Drs Makita and Schott); The Naito Foundation (to Drs Makita and Seki); the Support Center for Women Health Care Professionals and Researchers 21590921 (to Dr Seki); and grants GM057691, HL106632 and HL087226 from the National Institutes of Health (to Dr Delmar). |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1941-3149 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67504b7c4b3f8ed3bf9ce01da310cdfe https://pure.amc.nl/en/publications/a-connexin40-mutation-associated-with-a-malignant-variant-of-progressive-familial-heart-block-type-i(14d8b98e-e85f-4033-b61c-637d5b961ded).html |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....67504b7c4b3f8ed3bf9ce01da310cdfe |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19413149 |
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