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Article

Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation.

Journal of inherited metabolic disease - 1 Jul 2025

Marquez Jonathan, Viviano Stephen, Rahman Fahmid, Strohbehn Samuel D, Allworth Aimee, Perez Norma, Saneto Russell P, Anna Scott, Penón Portmann Mónica, Blue Elizabeth E, Glass Ian A, Deniz Engin, Shelkowitz Emily

Abstract excerpt

Mitochondriopathies are a diverse group of disorders caused by disruption of typical mitochondrial function. Heterogenous in nature, many of these disorders arise due to variants in genes encoding key mitochondrial proteins involved in transcription and translation of mitochondrial machinery. One such gene, VARS2, encodes a mitochondrial aminoacyl-tRNA synthetase that catalyzes the attachment of valine to its...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40563223
DOI: 10.1002/jimd.70053
PMCID: PMC12303584

Genes

VARS2

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Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation.PMID 40563223Read ↗

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