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

Myoadenylate deaminase deficiency.

J B Shumate, R Katnik, M Ruiz

    Muscle & Nerve
    |May 1, 1979
    PubMed
    Summary

    Myoadenylate deaminase (AMPDA) deficiency was confirmed using a new assay. This enzyme deficiency may represent a normal variant, not a disease, with possible autosomal inheritance.

    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

    Medical care disruptions during the first six months of the COVID-19 pandemic: the experience of older breast cancer survivors.

    Breast cancer research and treatment·2021
    Same author

    Medical Care Disruptions During the First Six-Months of the COVID19 Pandemic: The Experience of Older Breast Cancer Survivors.

    Research square·2021
    Same author

    Community resilience in a rural food system: documenting pathways to nutrition solutions.

    Public health·2020
    Same author

    Implementation of a Talbot-Lau x-ray deflectometer diagnostic platform for the OMEGA EP laser.

    The Review of scientific instruments·2020
    Same author

    An IPM Program for Managing Fungal Leaf Blight Diseases of Carrot in New York.

    Plant disease·2019
    Same author

    Early development of the Drosophila mushroom bodies, brain centres for associative learning and memory.

    Development genes and evolution·2016

    Area of Science:

    • Biochemistry
    • Enzymology
    • Human Genetics

    Background:

    • Myoadenylate deaminase (adenosine monophosphate deaminase--AMPDA) deficiency was previously identified using histochemical and biochemical methods.
    • The enzyme's function involves deaminating 5' AMP and elaborating ammonia.

    Purpose of the Study:

    • To confirm the utility of a histochemical method for detecting AMPDA deficiency.
    • To validate the existence of individuals with AMPDA deficiency using an independent assay.
    • To investigate the clinical implications and inheritance patterns of AMPDA deficiency.

    Main Methods:

    • Histochemical and biochemical assays for myoadenylate deaminase (AMPDA) activity.
    • Confirmation of enzyme deficiency using an unrelated assay technique.
    • Analysis of muscle tissue for inhibitory activity.
    • Clinical assessment of affected individuals.

    Main Results:

    • The utility of the histochemical method for detecting AMPDA deficiency was confirmed.
    • The existence of individuals deficient in AMPDA was validated by an independent assay.
    • No inhibitory activity was found in the muscles of patients with AMPDA deficiency.
    • Clinical presentation varied significantly among affected individuals.

    Conclusions:

    • AMPDA deficiency can be reliably detected using validated assay techniques.
    • The lack of clinical symptoms in many affected individuals suggests AMPDA deficiency may be a normal variant or subclinical state.
    • The occurrence in both sexes suggests a potential for autosomal inheritance patterns.

    Related Experiment Videos