Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Human coenzyme Q10 deficiency.

Catarina M Quinzii1, Salvatore DiMauro, Michio Hirano

  • 1Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

Neurochemical Research
|November 10, 2006
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.

medRxiv : the preprint server for health sciences·2026
Same author

Disease burden of untreated thymidine kinase 2 deficiency: insights from a large patient dataset.

Brain communications·2026
Same author

Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency.

Brain communications·2026
Same author

Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease.

Kidney international reports·2026
Same author

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

European journal of neurology·2026
Same author

BPM31510 Increases the CoQ Pool in Chemically Induced CoQ-Deficient Cells, CoQ-Deficient Patient Fibroblasts, and in Metabolically Active Murine Tissues.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology·2026

Primary CoQ(10) deficiency in infants is linked to genetic defects. Early genetic testing enables timely diagnosis and treatment, improving outcomes for this severe condition.

Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Ubiquinone (Coenzyme Q(10) or CoQ(10)) is vital for cellular energy production and membrane function.
  • CoQ(10) deficiency presents with diverse clinical symptoms, indicating genetic heterogeneity in its biosynthesis pathway.
  • Oral CoQ(10) supplementation benefits patients, underscoring the need for early diagnosis.

Purpose of the Study:

  • To identify the molecular basis of the infantile form of primary CoQ(10) deficiency.
  • To highlight the importance of genetic testing for early diagnosis and management.
  • To improve understanding of CoQ(10) deficiency pathogenesis.

Main Methods:

  • Genetic analysis to identify molecular defects.
  • Clinical assessment of patients with CoQ(10) deficiency.

Related Experiment Videos

  • Review of existing literature on CoQ(10) biosynthesis and deficiency.

    • Main Results:

    • The first molecular defect responsible for infantile primary CoQ(10) deficiency has been identified.
    • Genetic heterogeneity is confirmed as a factor in the varied clinical presentations of CoQ(10) deficiency.
    • Successful treatment outcomes with oral CoQ(10) supplementation are documented.

    Conclusions:

    • Identification of molecular defects is crucial for understanding CoQ(10) deficiency.
    • Genetic testing facilitates early diagnosis and presymptomatic intervention in at-risk siblings.
    • Prompt diagnosis and therapy are critical for managing life-threatening infantile encephalomyopathy due to CoQ(10) deficiency.