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This study shows the clinical, physiological, and molecular characterization of four new cases of CoQ<jats:sub>10<\/jats:sub> primary deficiency caused by five mutations in <jats:italic>COQ7<\/jats:italic>, three of which have not yet been described, inducing mitochondrial dysfunction in all patients. However, the specific combination of the identified variants in each patient generated precise pathophysiological and molecular alterations in fibroblasts, which would explain the differential in vitro response to supplementation therapy. Our results suggest that COQ7 dysfunction could be caused by specific structural changes that affect the interaction with COQ9 required for the DMQ<jats:sub>10<\/jats:sub> presentation to COQ7, the substrate access to the active site, and the maintenance of the active site structure. Remarkably, patients' fibroblasts share transcriptional remodeling, supporting a modification of energy metabolism towards glycolysis, which could be an adaptive mechanism against CoQ<jats:sub>10<\/jats:sub> deficiency. However, transcriptional analysis of mitochondria\u2010associated pathways showed distinct and dramatic differences between patient fibroblasts, which correlated with the extent of pathophysiological and neurological alterations observed in the probands. Overall, this study suggests that the combination of precise genetic diagnostics and the availability of new structural models of human proteins could help explain the origin of phenotypic pleiotropy observed in some genetic diseases and the different responses to available therapies.<\/jats:p>","DOI":"10.1002\/jimd.12776","type":"journal-article","created":{"date-parts":[[2024,7,8]],"date-time":"2024-07-08T09:46:23Z","timestamp":1720431983000},"page":"1047-1068","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["New variants expand the neurological phenotype of <scp>COQ7<\/scp> deficiency"],"prefix":"10.1002","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3688-2143","authenticated-orcid":false,"given":"Mar\u00eda Alc\u00e1zar","family":"Fabra","sequence":"first","affiliation":[{"name":"Departamento de Fisiolog\u00eda, Anatom\u00eda y Biolog\u00eda Celular, CABD Universidad Pablo de Olavide  Sevilla 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