{"id":"55d68b3c-f1ba-5e72-9e10-c559de7963e4","stable_key":"63ce713e-6aea-59f6-9896-ca30e010b2ce:l-tyrosine-yars2-defect","predicate":"when_f52l_impairs","statement":"YARS2 F52L patient-derived myotubes had reduced synthesis of respiratory-chain subunits, with respiratory complex I, III and IV dysfunction in affected tissue.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"b85ed884-453f-5659-9ece-cf35fbc47bcd","mechanism_event_label":"A processing defect can cause an energy problem despite an available amino acid.","subject":{"id":"91ccef7b-443e-5a1a-9656-adc2d867523f","slug":"yars2","display_name":"Human mitochondrial tyrosyl-tRNA synthetase / YARS2","entity_type_key":"protein"},"object":{"id":"7aa2f629-bcb7-5fc3-9a0b-c62eed3e1b70","slug":"human-yars2-mitochondrial-translation","display_name":"Human YARS2-dependent mitochondrial translation","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"b85ed884-453f-5659-9ece-cf35fbc47bcd","stable_key":"63ce713e-6aea-59f6-9896-ca30e010b2ce:l-tyrosine-yars2-defect-event","event_type":"observed_relationship","label":"A processing defect can cause an energy problem despite an available amino acid.","description":"YARS2 F52L patient-derived myotubes had reduced synthesis of respiratory-chain subunits, with respiratory complex I, III and IV dysfunction in affected tissue.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"91ccef7b-443e-5a1a-9656-adc2d867523f","slug":"yars2","display_name":"Human mitochondrial tyrosyl-tRNA synthetase / YARS2","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"7aa2f629-bcb7-5fc3-9a0b-c62eed3e1b70","slug":"human-yars2-mitochondrial-translation","display_name":"Human YARS2-dependent mitochondrial translation","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"bcfef85f-831d-5439-ba51-1aef4b090441","slug":"l-tyrosine","display_name":"L-Tyrosine","entity_type_key":"small_molecule"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"f1462b10-3fd3-5a9d-9e30-8b48a35929a5","slug":"human-mitochondrial-tyrosyl-trna","display_name":"Human mitochondrial Tyr-tRNA Tyr","entity_type_key":"rna"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence_access","value_text":"Primary abstract","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human MLASA families; skeletal muscle, fibroblasts and derived myotubes.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Fibroblasts were relatively spared, so the defect cannot be assigned one universal cellular severity.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"L-Tyrosine collection; species, compartment, exposure, co-substrates and manipulation remain explicit.","comparator":null,"unit":null,"notes":"","entity":{"slug":"l-tyrosine","display_name":"L-Tyrosine","entity_type_key":"small_molecule"}},{"dimension":"plain_language","value_text":"A processing defect can cause an energy problem despite an available amino acid.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. · 2010 · https://pubmed.ncbi.nlm.nih.gov/20598274/ · DOI 10.1016/j.ajhg.2010.06.001","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"fed09a66-0cc3-5568-b4c2-9eea38ef922d","evidence_kind":"source_excerpt","locator":"Lines 84-90","start_line":84,"end_line":90,"excerpt":"## l-tyrosine-yars2-defect\nA processing defect can cause an energy problem despite an available amino acid.\nYARS2 F52L patient-derived myotubes had reduced synthesis of respiratory-chain subunits, with respiratory complex I, III and IV dysfunction in affected tissue.\nModel: Human MLASA families; skeletal muscle, fibroblasts and derived myotubes.\nLimitations: Fibroblasts were relatively spared, so the defect cannot be assigned one universal cellular severity.\nEvidence access: Primary abstract\nMutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. · 2010 · https://pubmed.ncbi.nlm.nih.gov/20598274/ · DOI 10.1016/j.ajhg.2010.06.001","model_system":"Human MLASA families; skeletal muscle, fibroblasts and derived myotubes.","directness":"reported_statement","verification_status":"source_derived_draft","notes":"Original curation paraphrase; 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