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

Succinate dehydrogenase deficiency in human.

J-J Brière1, J Favier, V El Ghouzzi

  • 1INSERM U676, Batiment Ecran, Hôpital Robert Debré, 48, Boulevard Sérurier, 75019, Paris, France.

Cellular and Molecular Life Sciences : CMLS
|September 7, 2005
PubMed
Summary

Mutations in succinate dehydrogenase (SDH) genes cause diverse diseases, from childhood encephalomyopathy (SDHA) to tumors (SDHB-D). Understanding SDH's role is crucial for disease targeting and treatment.

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

Compressible lattice Boltzmann method with rotating overset grids.

Physical review. E·2023
Same author

Why antiplectic metachronal cilia waves are optimal to transport bronchial mucus.

Physical review. E·2019
Same author

Sterile Neutrino Constraints from the STEREO Experiment with 66 Days of Reactor-On Data.

Physical review letters·2018
Same author

Final Results of the OPERA Experiment on ν_{τ} Appearance in the CNGS Neutrino Beam.

Physical review letters·2018
Same author

Thermo-physical properties of synthetic mucus for the study of airway clearance.

Journal of biomedical materials research. Part A·2017
Same author

Rethinking pheochromocytomas and paragangliomas from a genomic perspective.

Oncogene·2015

Area of Science:

  • Biochemistry
  • Genetics
  • Mitochondrial Biology

Background:

  • Mitochondrial succinate dehydrogenase (SDH) is essential for cellular respiration and the Krebs cycle.
  • SDH is composed of four nuclear-encoded subunits (SDHA, SDHB, SDHC, SDH D).
  • Mutations in SDH genes lead to varied clinical outcomes, including neurological disorders and cancer.

Purpose of the Study:

  • To review the structure, function, and clinical relevance of SDH.
  • To explore hypotheses explaining diverse clinical presentations of SDH deficiencies.
  • To highlight SDH's significance as a disease marker and therapeutic target.

Main Methods:

  • Literature review of SDH gene mutations and associated clinical phenotypes.
  • Analysis of SDH's role in mitochondrial respiration and Krebs cycle.

Related Experiment Videos

  • Discussion of proposed mechanisms for differential disease manifestation.

    • Main Results:

    • SDHA mutations are linked to childhood encephalomyopathy.
    • Mutations in SDHB, SDHC, and SDH D genes are primarily associated with tumor formation.
    • Distinct clinical presentations arise from impaired SDH activity.

    Conclusions:

    • SDH deficiency has a wide spectrum of clinical consequences.
    • Further research is needed to fully understand SDH deficiency in humans.
    • SDH is a critical target for understanding and managing various diseases.