RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Liu Z; Xin Duan; Fatemeh Peymani; Yì Wáng; Chengjia Bao; Chao‐Jin Xu; Ying Zou; Zixuan Zhang; Yunxi Zhang; T Y Li; Martin Pavlov; Yì Wáng; Minhan Song; Tianyu Song; Xiaodi Han; Mingxi Sun; Danmin Shen; Ruoyu Duan; Huafang Jiang; Manting Xu; Holger Prokisch; Fang Fang

doi:10.1002/acn3.70379

Key Points

The aim is to evaluate how RNA sequencing improves the identification of pathogenic variants in mitochondrial disease.
Utilized RNA sequencing to analyze mitochondrial disease cases
Compared findings with traditional DNA sequencing techniques
Examined splicing, regulatory alterations, and NMD-escape events alongside molecular diagnostics.
RNA-seq revealed cryptic splicing events that DNA sequencing missed
Identified novel regulatory variants significant for accurate diagnosis
Highlighted the importance of transcriptome data in genomic assessments for neurometabolic conditions.

Implication

Demonstrates improved molecular diagnosis in mitochondrial disease, suggesting the importance of transcriptome analysis.

Abstract

RNA-seq substantially enhances molecular diagnosis in mitochondrial disease by exposing cryptic splicing, regulatory, and NMD-escape events invisible to DNA sequencing alone. These data advocate transcriptome analysis as an essential component of comprehensive genomic diagnostics in neurometabolic disease.

Discussion

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Cite This Study

Z et al. (2026) studied this question.

synapsesocial.com/papers/69eefd82fede9185760d4313 https://doi.org/10.1002/acn3.70379

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RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Key Points

Implication

Abstract

Discussion

Cite This Study

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Key Points

Implication

Abstract

Discussion

Cite This Study

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