New Molecular and Organelle Alterations Linked to Down Syndrome Heart Disease
Down syndrome (DS) is a genetic disorder caused by a trisomy of the human chromosome 21 (Hsa21). Overexpression of Hsa21 genes that encode proteins and non-coding RNAs (ncRNAs) can disrupt several cellular functions and biological processes, especially in the heart. Congenital heart defects (CHDs) a...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-01-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2021.792231/full |
| _version_ | 1818975511710269440 |
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| author | Leslye Venegas-Zamora Leslye Venegas-Zamora Francisco Bravo-Acuña Francisco Bravo-Acuña Francisco Sigcho Francisco Sigcho Wileidy Gomez Wileidy Gomez José Bustamante-Salazar José Bustamante-Salazar Zully Pedrozo Zully Pedrozo Zully Pedrozo Valentina Parra Valentina Parra Valentina Parra |
| author_facet | Leslye Venegas-Zamora Leslye Venegas-Zamora Francisco Bravo-Acuña Francisco Bravo-Acuña Francisco Sigcho Francisco Sigcho Wileidy Gomez Wileidy Gomez José Bustamante-Salazar José Bustamante-Salazar Zully Pedrozo Zully Pedrozo Zully Pedrozo Valentina Parra Valentina Parra Valentina Parra |
| author_sort | Leslye Venegas-Zamora |
| collection | DOAJ |
| description | Down syndrome (DS) is a genetic disorder caused by a trisomy of the human chromosome 21 (Hsa21). Overexpression of Hsa21 genes that encode proteins and non-coding RNAs (ncRNAs) can disrupt several cellular functions and biological processes, especially in the heart. Congenital heart defects (CHDs) are present in 45–50% of individuals with DS. Here, we describe the genetic background of this condition (Hsa21 and non-Hsa21 genes), including the role of ncRNAs, and the relevance of these new players in the study of the pathophysiology of DS heart diseases. Additionally, we discuss several distinct pathways in cardiomyocytes which help maintain a functional heart, but that might trigger hypertrophy and oxidative stress when altered. Moreover, we highlight the importance of investigating how mitochondrial and lysosomal dysfunction could eventually contribute to understanding impaired heart function and development in subjects with the Hsa21 trisomy. Altogether, this review focuses on the newest insights about the gene expression, molecular pathways, and organelle alterations involved in the cardiac phenotype of DS. |
| first_indexed | 2024-12-20T15:57:07Z |
| format | Article |
| id | doaj.art-0f7363c39bb448fa834331531b96ebf7 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-20T15:57:07Z |
| publishDate | 2022-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-0f7363c39bb448fa834331531b96ebf72022-12-21T19:34:26ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-01-011210.3389/fgene.2021.792231792231New Molecular and Organelle Alterations Linked to Down Syndrome Heart DiseaseLeslye Venegas-Zamora0Leslye Venegas-Zamora1Francisco Bravo-Acuña2Francisco Bravo-Acuña3Francisco Sigcho4Francisco Sigcho5Wileidy Gomez6Wileidy Gomez7José Bustamante-Salazar8José Bustamante-Salazar9Zully Pedrozo10Zully Pedrozo11Zully Pedrozo12Valentina Parra13Valentina Parra14Valentina Parra15Advanced Center of Chronic Diseases (ACCDiS), Facultad de Ciencias Químicas y Farmacéuticas y Facultad de Medicina, Universidad de Chile, Santiago, ChileDepartamento de Bioquímica y Biología Molecular, Facultad de Ciencias Químicas y Farmacéuticas, Universidad de Chile, Santiago, ChileAdvanced Center of Chronic Diseases (ACCDiS), Facultad de Ciencias Químicas y Farmacéuticas y Facultad de Medicina, Universidad de Chile, Santiago, ChileDepartamento de Bioquímica y Biología Molecular, Facultad de Ciencias Químicas y Farmacéuticas, Universidad de Chile, Santiago, ChileAdvanced Center of Chronic Diseases (ACCDiS), Facultad de Ciencias Químicas y Farmacéuticas y Facultad de Medicina, Universidad de Chile, Santiago, ChileDepartamento de Bioquímica y Biología Molecular, Facultad de Ciencias Químicas y Farmacéuticas, Universidad de Chile, Santiago, ChileAdvanced Center of Chronic Diseases (ACCDiS), Facultad de Ciencias Químicas y Farmacéuticas y Facultad de Medicina, Universidad de Chile, Santiago, ChileLaboratory of Neuroprotection and Autophagy, Center for Integrative Biology, Faculty of Science, Universidad Mayor, Santiago, ChileAdvanced Center of Chronic Diseases (ACCDiS), Facultad de Ciencias Químicas y Farmacéuticas y Facultad de Medicina, Universidad de Chile, Santiago, ChileDepartamento de Bioquímica y Biología Molecular, Facultad de Ciencias Químicas y Farmacéuticas, Universidad de Chile, Santiago, ChileAdvanced Center of Chronic Diseases (ACCDiS), Facultad de Ciencias Químicas y Farmacéuticas y Facultad de Medicina, Universidad de Chile, Santiago, ChilePrograma de Fisiología y Biofísica, ICBM, Facultad de Medicina, Universidad de Chile, Santiago, ChileRed para El Estudio de Enfermedades Cardiopulmonares de Alta Letalidad (REECPAL), Universidad de Chile, Santiago, ChileAdvanced Center of Chronic Diseases (ACCDiS), Facultad de Ciencias Químicas y Farmacéuticas y Facultad de Medicina, Universidad de Chile, Santiago, ChileDepartamento de Bioquímica y Biología Molecular, Facultad de Ciencias Químicas y Farmacéuticas, Universidad de Chile, Santiago, ChileRed para El Estudio de Enfermedades Cardiopulmonares de Alta Letalidad (REECPAL), Universidad de Chile, Santiago, ChileDown syndrome (DS) is a genetic disorder caused by a trisomy of the human chromosome 21 (Hsa21). Overexpression of Hsa21 genes that encode proteins and non-coding RNAs (ncRNAs) can disrupt several cellular functions and biological processes, especially in the heart. Congenital heart defects (CHDs) are present in 45–50% of individuals with DS. Here, we describe the genetic background of this condition (Hsa21 and non-Hsa21 genes), including the role of ncRNAs, and the relevance of these new players in the study of the pathophysiology of DS heart diseases. Additionally, we discuss several distinct pathways in cardiomyocytes which help maintain a functional heart, but that might trigger hypertrophy and oxidative stress when altered. Moreover, we highlight the importance of investigating how mitochondrial and lysosomal dysfunction could eventually contribute to understanding impaired heart function and development in subjects with the Hsa21 trisomy. Altogether, this review focuses on the newest insights about the gene expression, molecular pathways, and organelle alterations involved in the cardiac phenotype of DS.https://www.frontiersin.org/articles/10.3389/fgene.2021.792231/fullDown syndromechromosome 21congenital heart defectshypertrophyoxidative stressmitochondria |
| spellingShingle | Leslye Venegas-Zamora Leslye Venegas-Zamora Francisco Bravo-Acuña Francisco Bravo-Acuña Francisco Sigcho Francisco Sigcho Wileidy Gomez Wileidy Gomez José Bustamante-Salazar José Bustamante-Salazar Zully Pedrozo Zully Pedrozo Zully Pedrozo Valentina Parra Valentina Parra Valentina Parra New Molecular and Organelle Alterations Linked to Down Syndrome Heart Disease Frontiers in Genetics Down syndrome chromosome 21 congenital heart defects hypertrophy oxidative stress mitochondria |
| title | New Molecular and Organelle Alterations Linked to Down Syndrome Heart Disease |
| title_full | New Molecular and Organelle Alterations Linked to Down Syndrome Heart Disease |
| title_fullStr | New Molecular and Organelle Alterations Linked to Down Syndrome Heart Disease |
| title_full_unstemmed | New Molecular and Organelle Alterations Linked to Down Syndrome Heart Disease |
| title_short | New Molecular and Organelle Alterations Linked to Down Syndrome Heart Disease |
| title_sort | new molecular and organelle alterations linked to down syndrome heart disease |
| topic | Down syndrome chromosome 21 congenital heart defects hypertrophy oxidative stress mitochondria |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2021.792231/full |
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