{"id":"297870ba-8557-5dd8-ab28-32aa1f1257af","stable_key":"3b5aff9b-4086-5574-bfb4-3ea49ba520d7:coq10-coq5-deficiency","predicate":"loss_reduces","statement":"Affected siblings with COQ5 duplications had low white-cell CoQ; the available muscle sample was also depleted.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"2a948a92-720f-5965-966c-8f92917bd540","mechanism_event_label":"A low circulating-cell pool was linked to a defined synthesis defect.","subject":{"id":"b514f0de-7025-5d2d-9f4c-0d4672211c18","slug":"coq5","display_name":"Human CoQ C-methyltransferase / COQ5","entity_type_key":"protein"},"object":{"id":"3bee7141-e6c1-567b-b24a-26810012cdd5","slug":"coq-cellular-concentration","display_name":"Cellular coenzyme Q concentration","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"2a948a92-720f-5965-966c-8f92917bd540","stable_key":"3b5aff9b-4086-5574-bfb4-3ea49ba520d7:coq10-coq5-deficiency-event","event_type":"biochemical_relationship","label":"A low circulating-cell pool was linked to a defined synthesis defect.","description":"Affected siblings with COQ5 duplications had low white-cell CoQ; the available muscle sample was also depleted.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"b514f0de-7025-5d2d-9f4c-0d4672211c18","slug":"coq5","display_name":"Human CoQ C-methyltransferase / COQ5","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"3bee7141-e6c1-567b-b24a-26810012cdd5","slug":"coq-cellular-concentration","display_name":"Cellular coenzyme Q concentration","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/29044765.abstract.txt\", \"locator\": \"Primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"704d515eb76ce1074ae021346c10abee852de623057b33d287e4fad0b69d23b4\", \"start_char\": 0, \"end_char\": 1271, \"text_sha256\": \"704d515eb76ce1074ae021346c10abee852de623057b33d287e4fad0b69d23b4\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Family sequencing and biochemical measurements","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Biallelic COQ5 duplications; supplementation follow-up","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Small uncontrolled genetic case series; clinical improvement cannot yield a general efficacy estimate.","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":"Three human siblings","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"A low circulating-cell pool was linked to a defined synthesis defect.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[coq10-p29044765] A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. (2018). https://pubmed.ncbi.nlm.nih.gov/29044765/ DOI: 10.1002/humu.23345","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Neurologic disease and CoQ measurements","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":"f928d6d4-28c3-5ae9-a81a-f4d3f7e556ab","evidence_kind":"source_excerpt","locator":"Lines 1035-1046","start_line":1035,"end_line":1046,"excerpt":"### coq10-coq5-deficiency\nAffected siblings with COQ5 duplications had low white-cell CoQ; the available muscle sample was also depleted.\nCondition category: machinery_impairment\nnutrient_topic: Coenzyme Q10 research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: A low circulating-cell pool was linked to a defined synthesis defect.\norganism: Three human siblings\ntissue_or_cell_type: Neurologic disease and CoQ measurements\nexperimental_model: Family sequencing and biochemical measurements\nlimitations: Small uncontrolled genetic case series; clinical improvement cannot yield a general efficacy estimate.\nexposure: Biallelic COQ5 duplications; supplementation follow-up\nevidence_span: {\"source_cache\": \"artifacts/coq10-research/29044765.abstract.txt\", \"locator\": \"Primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"704d515eb76ce1074ae021346c10abee852de623057b33d287e4fad0b69d23b4\", \"start_char\": 0, \"end_char\": 1271, \"text_sha256\": \"704d515eb76ce1074ae021346c10abee852de623057b33d287e4fad0b69d23b4\"}\n[coq10-p29044765] A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. (2018). https://pubmed.ncbi.nlm.nih.gov/29044765/ DOI: 10.1002/humu.23345","model_system":"Family sequencing and biochemical measurements","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [coq10-p29044765] A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. (2018). https://pubmed.ncbi.nlm.nih.gov/29044765/ DOI: 10.1002/humu.23345","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"fc6c2f3b-14a3-59de-848e-ca1c02fee1df","stable_key":"import-3b5aff9b-4086-5574-bfb4-3ea49ba520d7","title":"Coenzyme Q10: biosynthesis, electron transfer, antioxidant recycling 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. 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