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

Nuclear gene defects in mitochondrial disorders.

M Zeviani1, P Corona, L Nijtmans

  • 1C. Besta National Neurological Institute, Milan, Italy.

Italian Journal of Neurological Sciences
|August 11, 2000
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

Strategies for fighting mitochondrial diseases.

Journal of internal medicine·2020
Same author

R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.

Neurogenetics·2018
Same author

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype.

Biochimica et biophysica acta. Molecular basis of disease·2018
Same author

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.

Molecular genetics and metabolism·2018
Same author

AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome.

Gene therapy·2017
Same author

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

Journal of neurology·2017

Loss-of-function mutations in the SURF-1 gene cause Leigh syndrome by blocking the early assembly of cytochrome c oxidase (COX), a key component of mitochondrial respiration.

Area of Science:

  • Mitochondrial biology
  • Molecular genetics
  • Biochemistry

Background:

  • Nuclear gene mutations are increasingly linked to oxidative phosphorylation defects and mitochondrial disorders.
  • SURF-1 mutations cause Leigh syndrome with cytochrome c oxidase deficiency.
  • The function of the Surf-1 protein (Surf-1p) remains largely unknown.

Purpose of the Study:

  • To investigate the function of the Surf-1 protein in mitochondria.
  • To determine the role of SURF-1 in the assembly of cytochrome c oxidase (COX).

Main Methods:

  • Utilized antibodies against human Surf-1p to track protein import and presence in cell lines.
  • Generated and expressed truncated SURF-1 constructs in SURF-1 null mutant cells.
  • Employed 2D gel electrophoresis to analyze COX assembly intermediates.

Related Experiment Videos

Main Results:

  • Surf-1p is imported into mitochondria as a precursor; it is absent in SURF-1 loss-of-function mutants.
  • Truncated SURF-1 constructs failed to rescue the COX deficiency phenotype.
  • COX assembly in SURF-1 null mutants is blocked at an early stage, prior to subunit II incorporation.

Conclusions:

  • The Surf-1 protein is essential for the proper assembly of cytochrome c oxidase.
  • Multiple regions of the Surf-1 protein are critical for its function.
  • SURF-1 plays a vital role in the early steps of COX complex formation within mitochondria.