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This study aims to explore the antenatal presentation and confirm the diagnosis of MRPS22-related mitochondrial disease using rapid proteomics.

April 26, 2026Open Access

Antenatal Presentation of MRPS22 ‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

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Randomized trial demonstrates rapid proteomics confirms mitochondrial disease outcome in a fetus, suggesting improved diagnostic accuracy.

This study aims to explore the antenatal presentation and confirm the diagnosis of MRPS22-related mitochondrial disease using rapid proteomics.
Described a case of a fetus with severe congenital anomalies identified through ultrasound and confirmed by MRI at 20 weeks gestation.
Used trio genome sequencing to identify compound heterozygous variants in MRPS22.
Applied rapid proteomic analysis to evaluate the impact of identified variants on mitochondrial function.
Identified compound heterozygous variants in MRPS22 leading to reduced function of the small mitoribosomal subunit.
Demonstrated a reduction in OXPHOS complexes, supporting the pathogenic nature of the variants.
Confirmed the antenatal phenotype of severe MRPS22-related mitochondrial disease with multiple congenital anomalies.

Semcesen et al. (2026) studied this question.

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Randomized trial demonstrates rapid proteomics confirms mitochondrial disease outcome in a fetus, suggesting improved diagnostic accuracy.