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 diseases: genotype versus phenotype

D C Wallace1

  • 1Department of Genetics and Molecular Medicine, Emory University Medical School, Atlanta, GA 30322.

Trends in Genetics : TIG
|April 1, 1993
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

Nutrition and its role in human evolution.

Journal of internal medicine·2019
Same author

Evidence for topologically protected surface states and a superconducting phase in [Tl4](Tl(1-x)Sn(x))Te3 using photoemission, specific heat, and magnetization measurements, and density functional theory.

Physical review letters·2014
Same author

Density of states features in some anomalous melting elements.

Journal of physics. Condensed matter : an Institute of Physics journal·2013
Same author

Mitochondrial genome instability resulting from SUV3 haploinsufficiency leads to tumorigenesis and shortened lifespan.

Oncogene·2012
Same author

Bioenergetic origins of complexity and disease.

Cold Spring Harbor symposia on quantitative biology·2011
Same author

Mitochondria, bioenergetics, and the epigenome in eukaryotic and human evolution.

Cold Spring Harbor symposia on quantitative biology·2009

Mitochondrial DNA mutations cause degenerative diseases. Tissue-specific accumulation of these mutations and varying nuclear gene expression explain why these inherited conditions appear later in life and affect specific tissues.

Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • Degenerative diseases are increasingly linked to mutations in mitochondrial DNA (mtDNA).
  • Inherited mtDNA mutations are present systemically but often manifest as late-onset, tissue-specific disorders.
  • Understanding the mechanisms behind this tissue specificity is crucial for disease management.

Purpose of the Study:

  • To investigate the factors contributing to the late-onset and tissue-specific presentation of degenerative diseases caused by mtDNA mutations.
  • To explore the interplay between somatic mtDNA mutation accumulation and nuclear gene expression in different tissues.

Main Methods:

  • Analysis of mtDNA mutation accumulation rates across various tissues.
  • Examination of age-dependent changes in somatic mtDNA mutations.

Related Experiment Videos

  • Comparative study of nuclear gene expression profiles related to mitochondrial function in different tissue types.

    • Main Results:

    • Evidence suggests a significant role for the age-related accumulation of somatic mtDNA mutations in specific tissues.
    • Variations in the expression of nuclear genes encoding mitochondrial proteins correlate with tissue-specific disease phenotypes.
    • A combination of these factors likely underlies the observed late-onset and tissue-specific disease patterns.

    Conclusions:

    • The tissue-specific manifestation of inherited mtDNA mutation diseases is influenced by both the accumulation of somatic mutations and differential nuclear gene expression.
    • Targeting tissue-specific compensatory mechanisms or mutation accumulation could offer therapeutic strategies for mitochondrial disorders.