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

New approaches in peroxisomal disorders.

H W Moser

    Developmental Neuroscience
    |January 1, 1987
    PubMed
    Summary

    Peroxisomes are vital organelles involved in metabolism. Peroxisomal disorders, often severe, stem from missing or dysfunctional peroxisomes, impacting multiple organs and development.

    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

    A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

    Journal of inherited metabolic disease·2009
    Same author

    Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy.

    Neurology·2005
    Same author

    Spectroscopic evidence of cerebral axonopathy in patients with "pure" adrenomyeloneuropathy.

    Neurology·2005
    Same author

    Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy.

    Neurology·2003
    Same author

    Clinical and electrophysiological improvement of adrenomyeloneuropathy with steroid treatment.

    Journal of neurology, neurosurgery, and psychiatry·2003
    Same author

    MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy.

    Neurology·2003

    Area of Science:

    • Cell Biology
    • Human Genetics
    • Metabolic Disorders

    Background:

    • Peroxisomes are essential subcellular organelles with critical roles in mammalian lipid and amino acid metabolism.
    • Key functions include ether lipid and bile acid synthesis, and fatty acid beta-oxidation, especially for very long-chain fatty acids.
    • Defects in peroxisome biogenesis or function lead to severe human disorders affecting multiple organs.

    Purpose of the Study:

    • To categorize and describe human peroxisomal disorders.
    • To highlight the significance of peroxisomes in human health and development.
    • To underscore the clinical and genetic diversity of these conditions.

    Main Methods:

    • Classification of peroxisomal disorders into three main groups based on peroxisome structure and enzyme function.
    • Clinical and biochemical characterization of patients with peroxisomal deficiencies.
    • Genetic analysis to identify specific enzyme defects.

    Main Results:

    • Group 1: Lacking peroxisomes (e.g., Zellweger syndrome), leading to inability to synthesize ether lipids or oxidize specific fatty acids.
    • Group 2: Intact peroxisomal structure but deficient enzyme function (e.g., pseudo-Zellweger syndrome).
    • Group 3: Intact peroxisomes with defects in single enzymes (e.g., X-linked adrenoleukodystrophy).

    Conclusions:

    • Human peroxisomal disorders are diverse, ranging from complete absence to single enzyme defects.
    • These disorders manifest with severe clinical phenotypes, including neurological deficits and malformations.
    • Studying peroxisomal disorders offers insights into peroxisome function in normal brain development and overall health.

    Related Experiment Videos