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Published on: March 22, 2017
Transcriptome analysis of human hypertrophic cardiomyopathy reveals inhibited cardiac development pathways in
Shi Chen1, Jingjing Hu2,3,4, Yidan Xu5
1State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Insights
This study reveals distinct gene expression patterns in pediatric and adult hypertrophic cardiomyopathy (HCM). Mitochondrial dysfunction characterizes adult HCM, while impaired cardiac development pathways are seen in pediatric HCM.
Area of Science:
- Cardiovascular Biology
- Genomics
- Pediatric Cardiology
Background:
- Hypertrophic cardiomyopathy (HCM) presents heterogeneous clinical and etiological characteristics between pediatric (P-HCM) and adult (A-HCM) populations.
- Current understanding of the diverse pathogenic mechanisms underlying P-HCM and A-HCM remains insufficient.
Purpose of the Study:
- To comprehensively analyze and compare the transcriptome signatures of A-HCM and P-HCM.
- To identify key differences in gene expression patterns between pediatric and adult HCM patients.
Main Methods:
- Transcriptome data from adult HCM patients were obtained from public databases (GSE89714).
- Novel transcriptome data were generated from 14 pediatric HCM patients and 9 infantile donor heart samples using RNA sequencing.
Main Results:
- Common gene expression signatures related to myofilament/protein synthesis and calcium ion regulation were identified in both A-HCM and P-HCM.
- Mitochondrial function dysregulation was specifically observed in A-HCM.
- Inhibition of cardiac developmental networks was a distinct feature of P-HCM.
Conclusions:
- Distinct transcriptome profiles differentiate pediatric and adult hypertrophic cardiomyopathy.
- Specific molecular pathways, including mitochondrial function in adults and cardiac development in children, are implicated in HCM pathogenesis.
- These findings offer insights into the potential mechanisms contributing to the higher incidence of septal defects in pediatric HCM patients.
Abstract:
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.
