Article
Mitochondrial aminoacyl-tRNA synthetase (ARS)-defects: A review of phenotypes and therapeutic strategies in 899 patients.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2026
Hoytema van Konijnenburg Eva M M, Ying Jingjing, Salomons Gajja S, Wortmann Saskia B, Muffels Irena J J, Fuchs Sabine A
Abstract excerpt
PURPOSE: Aminoacyl-transfer RNA synthetases (ARSs) are crucial for protein translation. The number of identified patients with mitochondrial (mt) ARS deficiencies is rapidly increasing, but treatment is limited to supportive care. Recently, cognate amino acid supplementation has been explored. Early diagnosis and insights into natural history are necessary to evaluate potential treatment effects. METHODS: In this...
Read the complete abstract on PubMedTopics
- Humans
- Amino Acyl-tRNA Synthetases
- Phenotype
- Mitochondria
- Mitochondrial Diseases