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Assessment of Open Probability of the Mitochondrial Permeability Transition Pore in the Setting of Coenzyme Q Excess
Published on: June 1, 2022
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q10
Azizia Wahedi1, Sniya Sudhakar1, Amanda Lam1
1From the Mitochondrial Research Group (A.W., S.R.), Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London; Medical Sciences Division (A.W.), University of Oxford; Department of Radiology (S.S.), Great Ormond Street Hospital for Children; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology, Great Ormond Street Hospital for Children; Neuromuscular Diseases (A.L.), Queen Square, UCL Institute of Neurology; Inborn Errors of Metabolism Section (J.I.R.C., P.M., S.H.), Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (P.G.), University College London; Metabolic Department (P.G., S.R.), Great Ormond Street Hospital for Children; North West Thames Regional Genetic Service (A.G.), North West London Hospitals; Neonatal Intensive Care Unit (J.K.), Luton and Dunstable University Hospital; and Department of Paediatric Neurology (J.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Early diagnosis and high-dose coenzyme Q10 (CoQ10) supplementation can prevent or reverse kidney disease in CoQ10 biosynthesis disorders. However, neurological outcomes vary, with some infants having a poor prognosis despite early treatment.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Neurology
Background:
- Coenzyme Q10 (CoQ10) biosynthesis disorders are rare, heterogeneous primary mitochondrial diseases.
- These disorders present with diverse clinical, biochemical, and neuroimaging features.
Purpose of the Study:
- To delineate clinical, biochemical, and neuroimaging features of CoQ10 biosynthesis disorders.
- To evaluate outcomes of oral CoQ10 supplementation.
- To assess the utility of peripheral blood mononuclear cell (PBMNC) CoQ10 levels in monitoring therapy.
Main Methods:
- Retrospective cohort study of 14 patients with genetically confirmed CoQ10 biosynthesis deficiency.
- Analysis of clinical data, biochemical markers, neuroimaging, and treatment outcomes.
- Monitoring of PBMNC CoQ10 levels before and after supplementation.
Main Results:
- High-dose oral CoQ10 (up to 70 mg/kg/d) was needed to improve neurological features; idebenone was sometimes required for seizures.
- Early CoQ10 supplementation (30 mg/kg/d) reversed and prevented kidney disease over 10 years.
- PBMNC CoQ10 levels increased post-supplementation, confirming absorption.
Conclusions:
- An early genome-wide diagnostic approach is crucial due to the lack of pathognomonic biomarkers.
- High-dose oral CoQ10 should be initiated promptly to prevent disease progression, especially kidney disease.
- Despite treatment, infants with neonatal-onset neurologic disease have a poor prognosis, requiring careful counseling.
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