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

Biochemical studies on Lowe's syndrome.

I Yamashina, H Yoshida, S Fukui

    Molecular and Cellular Biochemistry
    |January 1, 1983
    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

    Endothelium-dependent vasodilation is augmented by angiotensin converting enzyme inhibitors in healthy volunteers.

    Journal of cardiovascular pharmacology·1992
    Same author

    Primary mediastinal diffuse large cell lymphoma initially presented with pericardial infiltration.

    Internal medicine (Tokyo, Japan)·1992
    Same author

    Suppressive effect of prostaglandin E1, but not prostacyclin, on ouabain-induced ventricular fibrillation in guinea-pigs.

    Fukushima journal of medical science·1992
    Same author

    A lymphocyte-specific protein tyrosine kinase, p56lck, regulates the PMA-induced internalization of CD4.

    Biochimica et biophysica acta·1992
    Same author

    Contact hypersensitivity reaction to ovalbumin in newborn guinea pigs from maternally sensitized animals.

    Journal of dermatological science·1992
    Same author

    Relationship between plasma atrial and brain natriuretic peptide concentration and hemodynamic parameters during percutaneous transvenous mitral valvulotomy in patients with mitral stenosis.

    American heart journal·1992

    Lowe's syndrome, a rare genetic disorder, involves kidney dysfunction and abnormal glycosaminoglycan sulfation. This study identifies elevated nucleotide pyrophosphatase activity degrading PAPS as a key biochemical defect.

    Area of Science:

    • Biochemistry
    • Genetics
    • Molecular Biology

    Background:

    • Lowe's syndrome (oculo-cerebro-renal syndrome) presents with renal abnormalities like proteinuria and sialic aciduria.
    • Patients exhibit undersulfated chondroitin sulfate A, primarily due to renal tubule dysfunction.
    • Aberrant glycosaminoglycan sulfation is also observed in cultured skin fibroblasts from affected individuals.

    Purpose of the Study:

    • To investigate the underlying biochemical mechanisms of Lowe's syndrome.
    • To identify the specific molecular defect causing undersulfated glycosaminoglycans in patients.
    • To elucidate the role of active sulfate metabolism in the pathogenesis of Lowe's syndrome.

    Main Methods:

    • Biochemical analysis of cultured skin fibroblasts from Lowe's syndrome patients and normal individuals.

    Related Experiment Videos

  • Measurement of PAPS (adenosine 3'-phosphate 5'-phosphosulfate) biosynthesis, degradation, and transfer.
  • Enzyme activity assays to identify and quantify nucleotide pyrophosphatase involved in PAPS degradation.

    • Main Results:

    • Fibroblasts from Lowe's syndrome patients showed significantly elevated degradation of PAPS.
    • PAPS biosynthesis and sulfate transfer to glycosaminoglycans were normal, indicating a defect in PAPS breakdown.
    • Elevated PAPS degradation was attributed to a markedly increased activity of a specific nucleotide pyrophosphatase.

    Conclusions:

    • Lowe's syndrome is associated with a defect in the regulation of nucleotide pyrophosphatase biosynthesis, leading to enhanced PAPS degradation.
    • This enzymatic abnormality results in depressed sulfation of glycosaminoglycans, contributing to the syndrome's phenotype.
    • Heterozygotes exhibited intermediate enzyme activity, suggesting a potential diagnostic marker.