ArticleJournal of cellular and molecular medicine2017
Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.
Article in Journal of cellular and molecular medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 67 citations in OpenAlex.
- Bypass Treatments for Primary Coenzyme Q10 Deficiency: An Update.International journal of molecular sciences · 2026Review
- The weight of genotype on the clinical presentation of COQ7-related hereditary motor axonal neuropathy: a case series and literature review.Arquivos de neuro-psiquiatria · 2026Review
- Mitochondrial Dysfunctions in Human Primary Coenzyme QBiomolecules · 2026Review
- Article
- Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia.European journal of human genetics : EJHG · 2025Article
- Understanding coenzyme Q.Physiological reviews · 2024Review
- COQ7 defect causes prenatal onset of mitochondrial CoQEuropean journal of human genetics : EJHG · 2024Article
- COQ7 splice site variant causing a spastic paraparesis phenotype in siblings.Journal of genetics · 2024Article
- Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.Brain : a journal of neurology · 2023Article
- Primary Coenzyme Q10 Deficiency: An Update.Antioxidants (Basel, Switzerland) · 2023Review
- Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.Brain : a journal of neurology · 2023Article
- Phenotypic, molecular, and functional characterization of COQ7-related primary CoQMolecular genetics and metabolism · 2023Article
- Biosynthesis, Deficiency, and Supplementation of Coenzyme Q.Antioxidants (Basel, Switzerland) · 2023Review
- New Insights on the Uptake and Trafficking of Coenzyme Q.Antioxidants (Basel, Switzerland) · 2023Review
- A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Coenzyme Q biochemistry and biosynthesis.Trends in biochemical sciences · 2023Review
- Neuroimaging in Primary Coenzyme-QAntioxidants (Basel, Switzerland) · 2023Review
- Novel Homozygous Variant inNeurology. Genetics · 2023Article
- Predicting and Understanding the Pathology of Single Nucleotide Variants in HumanAntioxidants (Basel, Switzerland) · 2022Article
- Structure and functionality of a multimeric human COQ7:COQ9 complex.Molecular cell · 2022Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Primary ubiquinone (co-enzyme Q) deficiency results in a wide range of clinical features due to mitochondrial dysfunction. Here, we analyse and characterize two mutations in the ubiquinone biosynthetic gene COQ7. One mutation from the only previously identified patient (V141E), and one (L111P) from a 6-year-old girl who presents with spasticity and bilateral sensorineural hearing loss. We used patient fibroblast cell lines and a heterologous expression system to show that both mutations lead to loss of protein stability and decreased levels of ubiquinone that correlate with the severity of mitochondrial dysfunction. The severity of L111P is enhanced by the particular COQ7 polymorphism (T103M) that the patient carries, but not by a mitochondrial DNA mutation (A1555G) that is also present in the patient and that has been linked to aminoglycoside-dependent hearing loss. We analysed treatment with the unnatural biosynthesis precursor 2,4-dihydroxybenzoate (DHB), which can restore ubiquinone synthesis in cells completely lacking the enzymatic activity of COQ7. We find that the treatment is not beneficial for every COQ7 mutation and its outcome depends on the extent of enzyme activity loss.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.