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Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy
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| Zeitschriftentitel: | Circulation |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , , , , |
| In: | Circulation, 113, 2006, 9, S. 1171-1179 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Ovid Technologies (Wolters Kluwer Health)
|
| Schlagwörter: |
| author_facet |
Pilichou, Kalliopi Nava, Andrea Basso, Cristina Beffagna, Giorgia Bauce, Barbara Lorenzon, Alessandra Frigo, Gianfranco Vettori, Andrea Valente, Marialuisa Towbin, Jeffrey Thiene, Gaetano Danieli, Gian Antonio Rampazzo, Alessandra Pilichou, Kalliopi Nava, Andrea Basso, Cristina Beffagna, Giorgia Bauce, Barbara Lorenzon, Alessandra Frigo, Gianfranco Vettori, Andrea Valente, Marialuisa Towbin, Jeffrey Thiene, Gaetano Danieli, Gian Antonio Rampazzo, Alessandra |
|---|---|
| author |
Pilichou, Kalliopi Nava, Andrea Basso, Cristina Beffagna, Giorgia Bauce, Barbara Lorenzon, Alessandra Frigo, Gianfranco Vettori, Andrea Valente, Marialuisa Towbin, Jeffrey Thiene, Gaetano Danieli, Gian Antonio Rampazzo, Alessandra |
| spellingShingle |
Pilichou, Kalliopi Nava, Andrea Basso, Cristina Beffagna, Giorgia Bauce, Barbara Lorenzon, Alessandra Frigo, Gianfranco Vettori, Andrea Valente, Marialuisa Towbin, Jeffrey Thiene, Gaetano Danieli, Gian Antonio Rampazzo, Alessandra Circulation Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Physiology (medical) Cardiology and Cardiovascular Medicine |
| author_sort |
pilichou, kalliopi |
| spelling |
Pilichou, Kalliopi Nava, Andrea Basso, Cristina Beffagna, Giorgia Bauce, Barbara Lorenzon, Alessandra Frigo, Gianfranco Vettori, Andrea Valente, Marialuisa Towbin, Jeffrey Thiene, Gaetano Danieli, Gian Antonio Rampazzo, Alessandra 0009-7322 1524-4539 Ovid Technologies (Wolters Kluwer Health) Physiology (medical) Cardiology and Cardiovascular Medicine http://dx.doi.org/10.1161/circulationaha.105.583674 <jats:p> <jats:bold> <jats:italic>Background—</jats:italic> </jats:bold> Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by progressive myocardial atrophy with fibrofatty replacement. The recent identification of causative mutations in plakoglobin, desmoplakin (DSP), and plakophilin-2 (PKP2) genes led to the hypothesis that ARVC is due to desmosomal defects. Therefore, desmoglein-2 (DSG2), the only desmoglein isoform expressed in cardiac myocytes, was screened in subjects with ARVC. </jats:p> <jats:p> <jats:bold> <jats:italic>Methods and Results—</jats:italic> </jats:bold> In a series of 80 unrelated ARVC probands, 26 carried a mutation in DSP (16%), PKP2 (14%), and transforming growth factor-β3 (2.5%) genes; the remaining 54 were screened for DSG2 mutations by denaturing high-performance liquid chromatography and direct sequencing. Nine heterozygous DSG2 mutations (5 missense, 2 insertion-deletions, 1 nonsense, and 1 splice site mutation) were detected in 8 probands (10%). All probands fulfilled task force criteria for ARVC. An endomyocardial biopsy was obtained in 5, showing extensive loss of myocytes with fibrofatty tissue replacement. In 3 patients, electron microscopy investigation was performed, showing intercalated disc paleness, decreased desmosome number, and intercellular gap widening. </jats:p> <jats:p> <jats:bold> <jats:italic>Conclusions—</jats:italic> </jats:bold> This is the first investigation demonstrating DSG2 gene mutations in a significant number of ARVC-unrelated probands. Cardiac phenotype is characterized clinically by typical ARVC features with frequent left ventricular involvement and morphologically by fibrofatty myocardial replacement and desmosomal remodeling. The presence of mutations in desmosomal encoding genes in 40% of cases confirms that many forms of ARVC are due to alterations in the desmosome complex. </jats:p> Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Circulation |
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| title |
Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy |
| title_unstemmed |
Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy |
| title_full |
Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy |
| title_fullStr |
Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy |
| title_full_unstemmed |
Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy |
| title_short |
Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy |
| title_sort |
mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy |
| topic |
Physiology (medical) Cardiology and Cardiovascular Medicine |
| url |
http://dx.doi.org/10.1161/circulationaha.105.583674 |
| publishDate |
2006 |
| physical |
1171-1179 |
| description |
<jats:p>
<jats:bold>
<jats:italic>Background—</jats:italic>
</jats:bold>
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by progressive myocardial atrophy with fibrofatty replacement. The recent identification of causative mutations in plakoglobin, desmoplakin (DSP), and plakophilin-2 (PKP2) genes led to the hypothesis that ARVC is due to desmosomal defects. Therefore, desmoglein-2 (DSG2), the only desmoglein isoform expressed in cardiac myocytes, was screened in subjects with ARVC.
</jats:p>
<jats:p>
<jats:bold>
<jats:italic>Methods and Results—</jats:italic>
</jats:bold>
In a series of 80 unrelated ARVC probands, 26 carried a mutation in DSP (16%), PKP2 (14%), and transforming growth factor-β3 (2.5%) genes; the remaining 54 were screened for DSG2 mutations by denaturing high-performance liquid chromatography and direct sequencing. Nine heterozygous DSG2 mutations (5 missense, 2 insertion-deletions, 1 nonsense, and 1 splice site mutation) were detected in 8 probands (10%). All probands fulfilled task force criteria for ARVC. An endomyocardial biopsy was obtained in 5, showing extensive loss of myocytes with fibrofatty tissue replacement. In 3 patients, electron microscopy investigation was performed, showing intercalated disc paleness, decreased desmosome number, and intercellular gap widening.
</jats:p>
<jats:p>
<jats:bold>
<jats:italic>Conclusions—</jats:italic>
</jats:bold>
This is the first investigation demonstrating DSG2 gene mutations in a significant number of ARVC-unrelated probands. Cardiac phenotype is characterized clinically by typical ARVC features with frequent left ventricular involvement and morphologically by fibrofatty myocardial replacement and desmosomal remodeling. The presence of mutations in desmosomal encoding genes in 40% of cases confirms that many forms of ARVC are due to alterations in the desmosome complex.
</jats:p> |
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| author | Pilichou, Kalliopi, Nava, Andrea, Basso, Cristina, Beffagna, Giorgia, Bauce, Barbara, Lorenzon, Alessandra, Frigo, Gianfranco, Vettori, Andrea, Valente, Marialuisa, Towbin, Jeffrey, Thiene, Gaetano, Danieli, Gian Antonio, Rampazzo, Alessandra |
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| description | <jats:p> <jats:bold> <jats:italic>Background—</jats:italic> </jats:bold> Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by progressive myocardial atrophy with fibrofatty replacement. The recent identification of causative mutations in plakoglobin, desmoplakin (DSP), and plakophilin-2 (PKP2) genes led to the hypothesis that ARVC is due to desmosomal defects. Therefore, desmoglein-2 (DSG2), the only desmoglein isoform expressed in cardiac myocytes, was screened in subjects with ARVC. </jats:p> <jats:p> <jats:bold> <jats:italic>Methods and Results—</jats:italic> </jats:bold> In a series of 80 unrelated ARVC probands, 26 carried a mutation in DSP (16%), PKP2 (14%), and transforming growth factor-β3 (2.5%) genes; the remaining 54 were screened for DSG2 mutations by denaturing high-performance liquid chromatography and direct sequencing. Nine heterozygous DSG2 mutations (5 missense, 2 insertion-deletions, 1 nonsense, and 1 splice site mutation) were detected in 8 probands (10%). All probands fulfilled task force criteria for ARVC. An endomyocardial biopsy was obtained in 5, showing extensive loss of myocytes with fibrofatty tissue replacement. In 3 patients, electron microscopy investigation was performed, showing intercalated disc paleness, decreased desmosome number, and intercellular gap widening. </jats:p> <jats:p> <jats:bold> <jats:italic>Conclusions—</jats:italic> </jats:bold> This is the first investigation demonstrating DSG2 gene mutations in a significant number of ARVC-unrelated probands. Cardiac phenotype is characterized clinically by typical ARVC features with frequent left ventricular involvement and morphologically by fibrofatty myocardial replacement and desmosomal remodeling. The presence of mutations in desmosomal encoding genes in 40% of cases confirms that many forms of ARVC are due to alterations in the desmosome complex. </jats:p> |
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| imprint_str_mv | Ovid Technologies (Wolters Kluwer Health), 2006 |
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| spelling | Pilichou, Kalliopi Nava, Andrea Basso, Cristina Beffagna, Giorgia Bauce, Barbara Lorenzon, Alessandra Frigo, Gianfranco Vettori, Andrea Valente, Marialuisa Towbin, Jeffrey Thiene, Gaetano Danieli, Gian Antonio Rampazzo, Alessandra 0009-7322 1524-4539 Ovid Technologies (Wolters Kluwer Health) Physiology (medical) Cardiology and Cardiovascular Medicine http://dx.doi.org/10.1161/circulationaha.105.583674 <jats:p> <jats:bold> <jats:italic>Background—</jats:italic> </jats:bold> Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by progressive myocardial atrophy with fibrofatty replacement. The recent identification of causative mutations in plakoglobin, desmoplakin (DSP), and plakophilin-2 (PKP2) genes led to the hypothesis that ARVC is due to desmosomal defects. Therefore, desmoglein-2 (DSG2), the only desmoglein isoform expressed in cardiac myocytes, was screened in subjects with ARVC. </jats:p> <jats:p> <jats:bold> <jats:italic>Methods and Results—</jats:italic> </jats:bold> In a series of 80 unrelated ARVC probands, 26 carried a mutation in DSP (16%), PKP2 (14%), and transforming growth factor-β3 (2.5%) genes; the remaining 54 were screened for DSG2 mutations by denaturing high-performance liquid chromatography and direct sequencing. Nine heterozygous DSG2 mutations (5 missense, 2 insertion-deletions, 1 nonsense, and 1 splice site mutation) were detected in 8 probands (10%). All probands fulfilled task force criteria for ARVC. An endomyocardial biopsy was obtained in 5, showing extensive loss of myocytes with fibrofatty tissue replacement. In 3 patients, electron microscopy investigation was performed, showing intercalated disc paleness, decreased desmosome number, and intercellular gap widening. </jats:p> <jats:p> <jats:bold> <jats:italic>Conclusions—</jats:italic> </jats:bold> This is the first investigation demonstrating DSG2 gene mutations in a significant number of ARVC-unrelated probands. Cardiac phenotype is characterized clinically by typical ARVC features with frequent left ventricular involvement and morphologically by fibrofatty myocardial replacement and desmosomal remodeling. The presence of mutations in desmosomal encoding genes in 40% of cases confirms that many forms of ARVC are due to alterations in the desmosome complex. </jats:p> Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Circulation |
| spellingShingle | Pilichou, Kalliopi, Nava, Andrea, Basso, Cristina, Beffagna, Giorgia, Bauce, Barbara, Lorenzon, Alessandra, Frigo, Gianfranco, Vettori, Andrea, Valente, Marialuisa, Towbin, Jeffrey, Thiene, Gaetano, Danieli, Gian Antonio, Rampazzo, Alessandra, Circulation, Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy, Physiology (medical), Cardiology and Cardiovascular Medicine |
| title | Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy |
| title_full | Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy |
| title_fullStr | Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy |
| title_full_unstemmed | Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy |
| title_short | Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy |
| title_sort | mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy |
| title_unstemmed | Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy |
| topic | Physiology (medical), Cardiology and Cardiovascular Medicine |
| url | http://dx.doi.org/10.1161/circulationaha.105.583674 |