Pathomechanisms in Coenzyme Q10-Deficient Human Fibroblasts

Molecular Syndromology

Marta Luna-Sánchez¹  Luis C. López¹  Michio Hirano¹  Laura García-Corzo¹  Catarina M. Quinzii¹ 

[1] aDepartment of Physiology, Faculty of Medicine, University of Granada, Granada, Spain

关键词: Apoptosis;    ATP;    Coenzyme Q₁₀ deficiency;    Mitochondria;    Mitophagy;    Molecular basis of disease;    mtDNA;    Oxidative stress;    Ubiquinone;   

DOI  :  10.1159/000360494

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Primary coenzyme Q10 (CoQ10) deficiency is a rare mitochondrial disorder associated with 5 major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) cerebellar ataxia, (4) isolated myopathy, and (5) steroid-resistant nephrotic syndrome. Growth retardation, deafness and hearing loss have also been described in CoQ10-deficient patients. This heterogeneity in the clinical presentations suggests that multiple pathomechanisms may exist. To investigate the biochemical and molecular consequences of CoQ10 deficiency, different laboratories have studied cultures of skin fibroblasts from patients with CoQ10 deficiency. In this review, we summarize the results obtained in these studies over the last decade.

【 授权许可】

Unknown