{"id":"f2fdb388-fad9-5d81-a13d-81951d8bcc6d","stable_key":"56f1d914-e7da-595a-af69-c217b2b47407:l-phenylalanine-mitochondrial-heart","predicate":"when_lost_disrupts","statement":"Heart-specific Fars2 loss produced hypertrophy, ventricular dilation and progressive cardiac failure with mitochondrial dysfunction.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"negative","is_public":true,"mechanism_event_id":"9c75b40b-fed9-5758-b380-386376ea7bef","mechanism_event_label":"Failure at the protein-loading step can affect an organ that needs substantial energy.","subject":{"id":"b001f417-81dd-55aa-b97a-942e9d486211","slug":"mouse-fars2","display_name":"Mouse mitochondrial phenylalanyl-tRNA synthetase / Fars2","entity_type_key":"protein"},"object":{"id":"18939026-1d29-5038-993e-3f308b7e5bf6","slug":"mouse-fars2-cardiac-function","display_name":"Cardiac function in Fars2-deficient mice","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"9c75b40b-fed9-5758-b380-386376ea7bef","stable_key":"56f1d914-e7da-595a-af69-c217b2b47407:l-phenylalanine-mitochondrial-heart-event","event_type":"observed_relationship","label":"Failure at the protein-loading step can affect an organ that needs substantial energy.","description":"Heart-specific Fars2 loss produced hypertrophy, ventricular dilation and progressive cardiac failure with mitochondrial dysfunction.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"b001f417-81dd-55aa-b97a-942e9d486211","slug":"mouse-fars2","display_name":"Mouse mitochondrial phenylalanyl-tRNA synthetase / Fars2","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"18939026-1d29-5038-993e-3f308b7e5bf6","slug":"mouse-fars2-cardiac-function","display_name":"Cardiac function in Fars2-deficient mice","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"190407ad-0219-54b5-b05f-7c75f3895ca6","slug":"l-phenylalanine","display_name":"L-Phenylalanine","entity_type_key":"small_molecule"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"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 full text","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Conditional mouse cardiac Fars2 knockout; separate R415L model also studied.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"No evidence here that phenylalanine supplements rescue the genetic defect.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"L-Phenylalanine collection; species, compartment, exposure, co-substrates and manipulation remain explicit.","comparator":null,"unit":null,"notes":"","entity":{"slug":"l-phenylalanine","display_name":"L-Phenylalanine","entity_type_key":"small_molecule"}},{"dimension":"plain_language","value_text":"Failure at the protein-loading step can affect an organ that needs substantial energy.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System. · 2024 · https://pubmed.ncbi.nlm.nih.gov/38362779/ · DOI 10.1161/CIRCULATIONAHA.123.064489","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":"d1ccd863-a14e-50b1-8ae8-8085c3c93f43","evidence_kind":"source_excerpt","locator":"Lines 150-156","start_line":150,"end_line":156,"excerpt":"## l-phenylalanine-mitochondrial-heart\nFailure at the protein-loading step can affect an organ that needs substantial energy.\nHeart-specific Fars2 loss produced hypertrophy, ventricular dilation and progressive cardiac failure with mitochondrial dysfunction.\nModel: Conditional mouse cardiac Fars2 knockout; separate R415L model also studied.\nLimitations: No evidence here that phenylalanine supplements rescue the genetic defect.\nEvidence access: Primary full text\nFARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System. · 2024 · https://pubmed.ncbi.nlm.nih.gov/38362779/ · DOI 10.1161/CIRCULATIONAHA.123.064489","model_system":"Conditional mouse cardiac Fars2 knockout; separate R415L model also studied.","directness":"reported_statement","verification_status":"source_derived_draft","notes":"Original curation paraphrase; evidence access and experimental limitations specified.","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"54de7c56-1e60-5d7b-8ef9-852c58ae92ba","stable_key":"import-56f1d914-e7da-595a-af69-c217b2b47407","title":"L-Phenylalanine: transport, protein synthesis, cofactor recycling and cross-nutrient mechanisms (2026-09-19)","document_type":"imported_text","citation_label":"AI-assisted research curation; primary references, access levels and experimental limitations individually identified. Not publisher full text.","file_path":"","sha256":"4d53adcd4acc7a9aecf44ccb2623ec540c9d221a0f7c00002585870b39b8ffb8","revision_id":"fd182a81-4ab7-559a-9c77-fb4cf72982ef","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}