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

[Mitochondrial encephalomyopathies].

Jacqueline Mikol1, Marc Polivka

  • 1Service d'Anatomie et Cytologie Pathologiques, Hôpital Lariboisière, Paris. jacqueline.mikol@lrb.ap-hop-paris.fr

Annales De Pathologie
|December 6, 2005
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

Notes on the career of Jacqueline Mikol.

Free neuropathology·2023
Same author

Unexpected decrease of full-length prion protein in macaques inoculated with prion-contaminated blood products.

Frontiers in molecular biosciences·2023
Same author

Radiological Features of Bone Lymphoma on CT and MRI. A Retrospective Monocentric Series of 56 Patients.

Academic radiology·2022
Same author

Management strategies in clival and craniovertebral junction chordomas: a 29-year experience.

Journal of neurosurgery·2022
Same author

Non-human primates in prion diseases.

Cell and tissue research·2022
Same author

The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile.

Acta neuropathologica communications·2022
Same journal

[Case no. 2. Pseudotumoral pulmonary IgG4 disease].

Annales de pathologie·2026
Same journal

[Diffuse large B-cell lymphoma-NOS , high-grade B-cell lymphomas and Burkitt lymphoma: Updates].

Annales de pathologie·2026
Same journal

[Ironing out the diagnosis].

Annales de pathologie·2026
Same journal

[Ecological transformation and quality of surgical pathological analysis: Not such an insoluble equation].

Annales de pathologie·2026
Same journal

[Cerebrospinal fluid in the context of headaches with decreased visual acuity].

Annales de pathologie·2026
Same journal

[Facial granulomatous lesion in a traveler].

Annales de pathologie·2026
See all related articles

Mitochondrial encephalomyopathies are complex neurological disorders affecting muscles and the brain, stemming from mitochondrial DNA or nuclear DNA defects. These conditions, including MELAS and MERRF, are being reclassified with advances in genetic understanding.

Area of Science:

  • Neurology
  • Mitochondrial Biology
  • Genetics

Context:

  • Mitochondrial encephalomyopathies encompass a group of syndromes affecting both muscle and nervous systems.
  • These disorders are defined by mitochondrial morphological and/or functional abnormalities.
  • Muscle histology often reveals ragged-red fibers, with or without cytochrome C oxidase (COX) activity.

Purpose:

  • To outline the key pathological and etiological features of mitochondrial encephalomyopathies.
  • To highlight the characteristic neuropathological findings in the brain, such as spongiosis and neuronal loss.
  • To discuss the genetic basis, including mitochondrial DNA and nuclear DNA defects, and their inheritance patterns.

Summary:

  • Mitochondrial encephalomyopathies present with diverse clinical manifestations and characteristic histological findings in muscle (ragged-red fibers) and brain (spongiosis, neuronal loss).

Related Experiment Videos

  • Etiologies include defects in mitochondrial DNA (e.g., MELAS, MERRF, Kearns-Sayre, Leigh syndrome) with maternal inheritance, and nuclear DNA defects (e.g., Leigh syndrome) with Mendelian inheritance.
  • The classification of these syndromes is evolving due to rapid advancements in molecular genetics.

    • Impact:

    • Provides a foundational understanding of mitochondrial encephalomyopathies for researchers and clinicians.
    • Emphasizes the importance of genetic analysis in diagnosing and classifying these complex disorders.
    • Suggests that ongoing molecular genetic research will lead to a refined classification and potentially new therapeutic strategies.