Transcriptome analysis of human hypertrophic cardiomyopathy reveals inhibited cardiac development pathways in children
Summary: The epidemiological, etiological, and clinical characteristics vary greatly between pediatric (P-HCM) and adult (A-HCM) hypertrophic cardiomyopathy (HCM) patients, and the understanding of the heterogeneous pathogenesis mechanisms is insufficient to date. In this study, we aimed to comprehe...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-01-01
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| Series: | iScience |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2589004223027190 |
| _version_ | 1797382838070280192 |
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| author | Shi Chen Jingjing Hu Yidan Xu Jun Yan Shoujun Li Liang Chen Jing Zhang |
| author_facet | Shi Chen Jingjing Hu Yidan Xu Jun Yan Shoujun Li Liang Chen Jing Zhang |
| author_sort | Shi Chen |
| collection | DOAJ |
| description | Summary: The epidemiological, etiological, and clinical characteristics vary greatly between pediatric (P-HCM) and adult (A-HCM) hypertrophic cardiomyopathy (HCM) patients, and the understanding of the heterogeneous pathogenesis mechanisms is insufficient to date. In this study, we aimed to comprehensively assess the respective transcriptome signatures and uncover the essential differences in gene expression patterns among A-HCM and P-HCM. The transcriptome data of adults were collected from public data (GSE89714), and novel pediatric data were first obtained by RNA sequencing from 14 P-HCM and 9 infantile donor heart samples. Our study demonstrates the common signatures of myofilament or protein synthesis and calcium ion regulation pathways in HCM. Mitochondrial function is specifically dysregulated in A-HCM, whereas the inhibition of cardiac developing networks typifies P-HCM. These findings not only distinguish the transcriptome characteristics in children and adults with HCM but also reveal the potential mechanism of the higher incidence of septal defects in P-HCM patients. |
| first_indexed | 2024-03-08T21:12:09Z |
| format | Article |
| id | doaj.art-342e354220834e2cb4dbee9679b416cc |
| institution | Directory Open Access Journal |
| issn | 2589-0042 |
| language | English |
| last_indexed | 2024-03-08T21:12:09Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | iScience |
| spelling | doaj.art-342e354220834e2cb4dbee9679b416cc2023-12-22T05:33:56ZengElsevieriScience2589-00422024-01-01271108642Transcriptome analysis of human hypertrophic cardiomyopathy reveals inhibited cardiac development pathways in childrenShi Chen0Jingjing Hu1Yidan Xu2Jun Yan3Shoujun Li4Liang Chen5Jing Zhang6State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaKey Laboratory of Public Health Safety, Ministry of Education, Fudan University; Shanghai, China; Shanghai Pinnacles Medical Technology Co., Ltd, Shanghai 200126, China; Department of Epidemiology, School of Public Health, Fudan University, Shanghai, ChinaDepartment of Cardiac Surgery, Fuwai Hospital Chinese Academy of Medical Sciences, Shenzhen, Shenzhen, ChinaState Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaState Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaState Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China; Corresponding authorState Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China; Department of Cardiac Surgery, Fuwai Hospital Chinese Academy of Medical Sciences, Shenzhen, Shenzhen, China; Corresponding authorSummary: The epidemiological, etiological, and clinical characteristics vary greatly between pediatric (P-HCM) and adult (A-HCM) hypertrophic cardiomyopathy (HCM) patients, and the understanding of the heterogeneous pathogenesis mechanisms is insufficient to date. In this study, we aimed to comprehensively assess the respective transcriptome signatures and uncover the essential differences in gene expression patterns among A-HCM and P-HCM. The transcriptome data of adults were collected from public data (GSE89714), and novel pediatric data were first obtained by RNA sequencing from 14 P-HCM and 9 infantile donor heart samples. Our study demonstrates the common signatures of myofilament or protein synthesis and calcium ion regulation pathways in HCM. Mitochondrial function is specifically dysregulated in A-HCM, whereas the inhibition of cardiac developing networks typifies P-HCM. These findings not only distinguish the transcriptome characteristics in children and adults with HCM but also reveal the potential mechanism of the higher incidence of septal defects in P-HCM patients.http://www.sciencedirect.com/science/article/pii/S2589004223027190Health sciencesMedicineBiological sciencesOmics |
| spellingShingle | Shi Chen Jingjing Hu Yidan Xu Jun Yan Shoujun Li Liang Chen Jing Zhang Transcriptome analysis of human hypertrophic cardiomyopathy reveals inhibited cardiac development pathways in children iScience Health sciences Medicine Biological sciences Omics |
| title | Transcriptome analysis of human hypertrophic cardiomyopathy reveals inhibited cardiac development pathways in children |
| title_full | Transcriptome analysis of human hypertrophic cardiomyopathy reveals inhibited cardiac development pathways in children |
| title_fullStr | Transcriptome analysis of human hypertrophic cardiomyopathy reveals inhibited cardiac development pathways in children |
| title_full_unstemmed | Transcriptome analysis of human hypertrophic cardiomyopathy reveals inhibited cardiac development pathways in children |
| title_short | Transcriptome analysis of human hypertrophic cardiomyopathy reveals inhibited cardiac development pathways in children |
| title_sort | transcriptome analysis of human hypertrophic cardiomyopathy reveals inhibited cardiac development pathways in children |
| topic | Health sciences Medicine Biological sciences Omics |
| url | http://www.sciencedirect.com/science/article/pii/S2589004223027190 |
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