{"id":"ea312cee-fe0a-50bf-bd16-3c730d2477a8","stable_key":"3b5aff9b-4086-5574-bfb4-3ea49ba520d7:coq10-coq6-nephropathy","predicate":"pathogenic_variants_associated_with","statement":"Six COQ6 mutations in 13 individuals were linked to early nephrotic syndrome and sensorineural deafness.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"d71f460b-990f-5469-b4eb-f9dc72ee875f","mechanism_event_label":"A renal presentation can arise from a CoQ synthesis gene.","subject":{"id":"72ad4a49-5bb2-5caa-884b-20d65c271c0f","slug":"coq6","display_name":"Human CoQ monooxygenase / COQ6","entity_type_key":"protein"},"object":{"id":"befb0c2b-830f-551d-8256-aa36622164d7","slug":"nephrotic-syndrome","display_name":"Nephrotic syndrome","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"d71f460b-990f-5469-b4eb-f9dc72ee875f","stable_key":"3b5aff9b-4086-5574-bfb4-3ea49ba520d7:coq10-coq6-nephropathy-event","event_type":"biochemical_relationship","label":"A renal presentation can arise from a CoQ synthesis gene.","description":"Six COQ6 mutations in 13 individuals were linked to early nephrotic syndrome and sensorineural deafness.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"72ad4a49-5bb2-5caa-884b-20d65c271c0f","slug":"coq6","display_name":"Human CoQ monooxygenase / COQ6","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"befb0c2b-830f-551d-8256-aa36622164d7","slug":"nephrotic-syndrome","display_name":"Nephrotic syndrome","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence_span","value_text":"{\"source_cache\": \"artifacts/coq10-research/21540551.abstract.txt\", \"locator\": \"Primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"3f01d7d237328376c3eb1ed5a3c2c1ee7561d78fb3890101ab5e8eb678c64def\", \"start_char\": 0, \"end_char\": 1142, \"text_sha256\": \"3f01d7d237328376c3eb1ed5a3c2c1ee7561d78fb3890101ab5e8eb678c64def\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human pedigrees, yeast validation, podocyte and zebrafish knockdown","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"COQ6 variants; cell/embryo knockdown and CoQ treatment","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Human disease association and model rescue are different evidence layers; not proof that every nephrotic syndrome responds to CoQ.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Coenzyme Q10 research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"coq10","display_name":"Coenzyme Q10 / CoQ10 redox system","entity_type_key":"chemical_species"}},{"dimension":"organism","value_text":"13 humans from seven families plus model systems","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"A renal presentation can arise from a CoQ synthesis gene.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[coq10-p21540551] COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. (2011). https://pubmed.ncbi.nlm.nih.gov/21540551/ DOI: 10.1172/jci45693","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Renal podocytes and inner-ear disease","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":"69656d65-a754-5296-a2fa-978a224f43b6","evidence_kind":"source_excerpt","locator":"Lines 1009-1020","start_line":1009,"end_line":1020,"excerpt":"### coq10-coq6-nephropathy\nSix COQ6 mutations in 13 individuals were linked to early nephrotic syndrome and sensorineural deafness.\nCondition category: machinery_impairment\nnutrient_topic: Coenzyme Q10 research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: A renal presentation can arise from a CoQ synthesis gene.\norganism: 13 humans from seven families plus model systems\ntissue_or_cell_type: Renal podocytes and inner-ear disease\nexperimental_model: Human pedigrees, yeast validation, podocyte and zebrafish knockdown\nlimitations: Human disease association and model rescue are different evidence layers; not proof that every nephrotic syndrome responds to CoQ.\nexposure: COQ6 variants; cell/embryo knockdown and CoQ treatment\nevidence_span: {\"source_cache\": \"artifacts/coq10-research/21540551.abstract.txt\", \"locator\": \"Primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"3f01d7d237328376c3eb1ed5a3c2c1ee7561d78fb3890101ab5e8eb678c64def\", \"start_char\": 0, \"end_char\": 1142, \"text_sha256\": \"3f01d7d237328376c3eb1ed5a3c2c1ee7561d78fb3890101ab5e8eb678c64def\"}\n[coq10-p21540551] COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 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