{"id":"70b922b4-2e38-57ea-900c-07f9642e0490","stable_key":"f992b796-377d-53bf-a39b-7e5d41dbe194:b5-bio-coasy-fibroblast-free-coa","predicate":"did_not_significantly_change_measured","statement":"Free-CoA levels in fibroblasts from the two COASY cases were not significantly different from the control in the reported HPLC analysis.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"neutral","is_public":true,"mechanism_event_id":"d9751602-893e-53d0-bfa8-6872bc1b9b2e","mechanism_event_label":"A severe enzyme defect did not imply an absent whole-cell free-CoA pool in these fibroblasts.","subject":{"id":"5ff411e4-ae85-5fab-9126-8a788c96c8a2","slug":"human-coasy-pathogenic-genotypes","display_name":"Human pathogenic COASY genotypes in the Dusi 2014 cases","entity_type_key":"gene"},"object":{"id":"764c3858-9e9d-555d-ab7f-ada2f351a534","slug":"primary-fibroblast-free-coa","display_name":"Free coenzyme A in primary fibroblasts","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"d9751602-893e-53d0-bfa8-6872bc1b9b2e","stable_key":"f992b796-377d-53bf-a39b-7e5d41dbe194:b5-bio-coasy-fibroblast-free-coa-event","event_type":"observed_intervention","label":"A severe enzyme defect did not imply an absent whole-cell free-CoA pool in these fibroblasts.","description":"Free-CoA levels in fibroblasts from the two COASY cases were not significantly different from the control in the reported HPLC analysis.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"4faa6456-aff8-59eb-9e3f-3326a436e401","slug":"coenzyme-a","display_name":"Coenzyme A","entity_type_key":"small_molecule"},"role":"measured_metabolite","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"485e7221-d4ad-55fc-a7f2-28caa0d05066","slug":"coasy","display_name":"Coenzyme A synthase / COASY","entity_type_key":"protein"},"role":"affected_machinery","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"5ff411e4-ae85-5fab-9126-8a788c96c8a2","slug":"human-coasy-pathogenic-genotypes","display_name":"Human pathogenic COASY genotypes in the Dusi 2014 cases","entity_type_key":"gene"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"764c3858-9e9d-555d-ab7f-ada2f351a534","slug":"primary-fibroblast-free-coa","display_name":"Free coenzyme A in primary fibroblasts","entity_type_key":"cellular_process"},"role":"target","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":"cross_nutrient","value_text":"false","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Two unrelated human NBIA cases, primary fibroblasts, recombinant wild-type and variant COASY DPCK domains and yeast studies","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Two affected individuals versus one healthy-control fibroblast line; four independent experiments shown in Fig. 6.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Small cell-line comparison and an absence of statistical significance, not proof of equal CoA in all compartments or tissues. Acetyl-CoA was significantly lower in one case; total-CoA trends and free-CoA results must not be conflated.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Pantothenic acid (vitamin B5) research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"pantothenate","display_name":"Pantothenate (vitamin B5)","entity_type_key":"small_molecule"}},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"A severe enzyme defect did not imply an absent whole-cell free-CoA pool in these fibroblasts.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[b5-bio-coasy2014] Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. (2014). https://pubmed.ncbi.nlm.nih.gov/24360804/ DOI: 10.1016/j.ajhg.2013.11.008","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Human primary skin fibroblasts","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":"53cb8460-fe84-5fd0-a2e6-0aa3fafc2cc8","evidence_kind":"source_excerpt","locator":"Lines 743-754","start_line":743,"end_line":754,"excerpt":"### b5-bio-coasy-fibroblast-free-coa\nFree-CoA levels in fibroblasts from the two COASY cases were not significantly different from the control in the reported HPLC analysis.\nCondition category: machinery_impairment\nnutrient_topic: Pantothenic acid (vitamin B5) research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: A severe enzyme defect did not imply an absent whole-cell free-CoA pool in these fibroblasts.\norganism: Homo sapiens\ntissue_or_cell_type: Human primary skin fibroblasts\nexperimental_model: Two unrelated human NBIA cases, primary fibroblasts, recombinant wild-type and variant COASY DPCK domains and yeast studies\nlimitations: Small cell-line comparison and an absence of statistical significance, not proof of equal CoA in all compartments or tissues. Acetyl-CoA was significantly lower in one case; total-CoA trends and free-CoA results must not be conflated.\nexposure: Two affected individuals versus one healthy-control fibroblast line; four independent experiments shown in Fig. 6.\ncross_nutrient: false\n[b5-bio-coasy2014] Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. (2014). https://pubmed.ncbi.nlm.nih.gov/24360804/ DOI: 10.1016/j.ajhg.2013.11.008","model_system":"Two unrelated human NBIA cases, primary fibroblasts, recombinant wild-type and variant COASY DPCK domains and yeast studies","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [b5-bio-coasy2014] Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. (2014). https://pubmed.ncbi.nlm.nih.gov/24360804/ DOI: 10.1016/j.ajhg.2013.11.008","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"0716b500-dd0b-5425-b9d0-d88bc9c09e86","stable_key":"import-f992b796-377d-53bf-a39b-7e5d41dbe194","title":"Pantothenic acid (vitamin B5): coenzyme A, deficiency and nutrient interactions (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text.","file_path":"","sha256":"b5a49f5a2373ca6064c9a4e014e052dad2f6f199a82bb09b26b82b831c36110b","revision_id":"78f3e793-f084-5ee2-8703-b661c4b650bf","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}