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Article

A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.

European journal of human genetics : EJHG - 1 Mar 2026

Ratnaike Thiloka E, Kule M Eren, Paramonov Ida, Matalonga Leslie, Polavarapu Kiran, Olimpio Catarina, Horváth Rita

Abstract excerpt

Mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) are a group of proteins encoded by nuclear DNA that play a crucial role in mitochondrial protein synthesis. Mitochondrial diseases caused by mt-aaRS variants are phenotypically heterogenous but often present with significant neurological features such as childhood-onset encephalopathy and seizures. As such, these conditions are a diagnostic challenge. We present...

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Identifiers

PMID: 41454053
DOI: 10.1038/s41431-025-01990-y
PMCID: PMC12963482

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