دورية أكاديمية
Buccal Mucosa Cells as a Potential Diagnostic Tool to Study Onset and Progression of Arrhythmogenic Cardiomyopathy.
| العنوان: | Buccal Mucosa Cells as a Potential Diagnostic Tool to Study Onset and Progression of Arrhythmogenic Cardiomyopathy. |
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| المؤلفون: | Driessen HE; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands., van der Voorn SM; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands., Bourfiss M; Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands., van Lint FHM; Department of Genetics, Division Heart & Lungs, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Mirzad F; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands., Onsri LE; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands., Vos MA; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands., van Veen TAB; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands. |
| المصدر: | International journal of molecular sciences [Int J Mol Sci] 2021 Dec 21; Vol. 23 (1). Date of Electronic Publication: 2021 Dec 21. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Basel, Switzerland : MDPI, [2000- |
| مواضيع طبية MeSH: | Arrhythmogenic Right Ventricular Dysplasia/*diagnosis , Arrhythmogenic Right Ventricular Dysplasia/*pathology , Mouth Mucosa/*pathology, Adult ; Arrhythmogenic Right Ventricular Dysplasia/metabolism ; Calcium-Binding Proteins/metabolism ; Desmosomes/metabolism ; Desmosomes/pathology ; Disease Progression ; Female ; Humans ; Male ; Middle Aged ; Mouth Mucosa/metabolism ; gamma Catenin/metabolism |
| مستخلص: | In arrhythmogenic cardiomyopathy (ACM) pathogenic variants are found in genes encoding desmosomal proteins and in non-desmosomal genes, such as phospholamban ( PLN , p.Arg14del variant). Previous research showed that plakoglobin protein levels and localization in the cardiac tissue of ACM patients, and PLN p.Arg14del patients diagnosed with an ACM phenotype, are disturbed. Moreover, the effects of pathogenic variants in desmosomal genes are reflected in non-cardiac tissues like buccal mucosa cells (BMC) which could serve as a promising new and non-invasive tool to support diagnosis. We collected the BMC of 33 ACM patients, 17 PLN p.Arg14del patients and 34 controls, labelled the BMC with anti-plakoglobin antibodies at different concentrations, and scored their membrane labelling. We found that plakoglobin protein levels were significantly reduced in BMC obtained from diagnosed ACM patients and preclinical variant carriers when compared to controls. This effect was independent from age and sex. Moderate to strong correlations were found with the revised 2010 Task Force Criteria score which is commonly used for ACM diagnosis (r |
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| معلومات مُعتمدة: | CVON-eDETECT 2015-12 The Netherlands Cardio Vascular Research Initiative (CVON): the Dutch Heart Foundation, Dutch Federation of University Medical Center, The Netherlands Organization for Health Research and Development and the Royal Netherlands Academy of Sciences; CVON-eDETECT 2015-12 Stichting Vriendenloterij |
| فهرسة مساهمة: | Keywords: arrhythmogenic cardiomyopathy; buccal mucosa; diagnosis; phospholamban; plakoglobin |
| المشرفين على المادة: | 0 (Calcium-Binding Proteins) 0 (gamma Catenin) 0 (phospholamban) |
| تواريخ الأحداث: | Date Created: 20220111 Date Completed: 20220128 Latest Revision: 20220128 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC8744793 |
| DOI: | 10.3390/ijms23010057 |
| PMID: | 35008484 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1422-0067 |
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| DOI: | 10.3390/ijms23010057 |