Why the study?
Many cases of pediatric cardiomyopathy have no known etiology, prompting investigation into whether mitochondrial genome defects contribute to disease pathogenesis.
Does whole mitochondrial DNA sequencing combined with nuclear gene sequencing identify additional pathogenic variants in pediatric patients with primary non-syndromic cardiomyopathy?
Comparison
Pediatric cardiomyopathy patients vs healthy controls
Design
Case-control genetic sequencing study
Key result
Combined nuclear and mitochondrial DNA sequencing in 27 pediatric cardiomyopathy patients identified pathogenic nuclear variants in 7 patients and revealed additional mitochondrial variants that may synergistically disrupt myocardial bioenergetics.
Authors
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mtDNA sequencing may detect missed variants in unexplained pediatric cardiomyopathy; leaves open its diagnostic role pending validation.
Observational (n=58)
No
Does whole mitochondrial DNA sequencing combined with nuclear gene sequencing identify additional pathogenic variants in pediatric patients with primary non-syndromic cardiomyopathy?
Integrating whole mitochondrial DNA sequencing with nuclear gene panels reveals that mitochondrial variants may act synergistically with nuclear defects to drive pediatric cardiomyopathies.
Temena et al. (2025) conducted an observational in Pediatric cardiomyopathies (n=58). Mitochondrial and nuclear genome variants vs. Healthy controls was evaluated on Identification of pathogenic nuclear and mitochondrial DNA variants. Combined nuclear and mitochondrial DNA sequencing in 27 pediatric cardiomyopathy patients identified pathogenic nuclear variants in 7 patients and revealed additional mitochondrial variants that may synergistically disrupt myocardial bioenergetics.
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