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

Human mutations affecting aging--a review.

W T Brown

    Mechanisms of Ageing and Development
    |February 1, 1979
    PubMed
    Summary
    This summary is machine-generated.

    Human genetic mutations, like those in progeria and Werner's syndrome, offer insights into normal aging. Studying these genetic disorders may unlock secrets to longevity and aging processes.

    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

    Strengthening lung cancer screening in Hong Kong: policy, innovation, and collaborative approaches for early detection and improved outcomes.

    Hong Kong medical journal = Xianggang yi xue za zhi·2025
    Same author

    Genome-wide differential expression of synaptic long noncoding RNAs in autism spectrum disorder.

    Translational psychiatry·2015
    Same author

    Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors.

    Journal of genetic counseling·2013
    Same author

    Alterations in mitochondrial DNA copy number and the activities of electron transport chain complexes and pyruvate dehydrogenase in the frontal cortex from subjects with autism.

    Translational psychiatry·2013
    Same author

    Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate.

    JIMD reports·2013
    Same author

    Quantitative 3D evaluation of step ascent and descent in individuals with Down syndrome--analysis of a daily challenging task.

    Journal of intellectual disability research : JIDR·2012

    Area of Science:

    • Genetics
    • Gerontology
    • Evolutionary Biology

    Background:

    • Lifespans are genetically determined, with human evolution suggesting few genes control longevity.
    • Biochemical evolution indicates enzyme level regulation is key to evolutionary changes.

    Purpose of the Study:

    • To review human genetic mutations affecting aging.
    • To explore their contribution to understanding normal aging processes.

    Main Methods:

    • Review of scientific literature on genetic mutations and aging.
    • Analysis of human genetic disorders with premature aging phenotypes.
    • Examination of chromosomal abnormalities linked to aging appearance.

    Main Results:

    • Specific genetic mutations (progeria, Werner's syndrome) mimic premature aging.

    Related Experiment Videos

  • Chromosomal abnormalities (Down's syndrome) may involve abnormal gene regulation.
  • Few genes likely determine human longevity due to rapid evolutionary changes.

    • Conclusions:

    • Elucidating molecular defects in premature aging syndromes is crucial.
    • Understanding gene regulatory mechanisms in eukaryotes is key to aging research.
    • Genetic mutations provide valuable models for studying normal aging.