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

A new point mutation associated with mitochondrial encephalomyopathy

K J Morten1, J M Cooper, G K Brown

  • 1Department of Paediatrics, University of Oxford, John Radcliffe Hospital, UK.

Human Molecular Genetics
|December 1, 1993
PubMed
Summary

A novel mutation in the mitochondrial tRNA leucine(UUR) gene was identified in a patient with mitochondrial encephalomyopathy. This finding expands the known genetic causes of maternally inherited mitochondrial disorders.

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

Creating tissue on chip constructs in microtitre plates for drug discovery.

RSC advances·2022
Same author

Desvenlafaxine overdose and the occurrence of serotonin toxicity, seizures and cardiovascular effects.

Clinical toxicology (Philadelphia, Pa.)·2016
Same author

Corrigendum: Visualization of Surface Acoustic Waves in Thin Liquid Films.

Scientific reports·2016
Same author

Visualization of Surface Acoustic Waves in Thin Liquid Films.

Scientific reports·2016
Same author

Assessment of biocompatibility of 3D printed photopolymers using zebrafish embryo toxicity assays.

Lab on a chip·2015
Same author

Effect of crop management and sample year on abundance of soil bacterial communities in organic and conventional cropping systems.

Journal of applied microbiology·2015

Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • Mitochondrial myopathies, including MELAS syndrome, are often linked to point mutations in the mitochondrial tRNA leucine(UUR) gene.
  • Maternally inherited mitochondrial diseases result from mutations in the mitochondrial genome.

Observation:

  • A novel mutation in the mitochondrial tRNA leucine(UUR) gene was identified in a patient presenting with mitochondrial encephalomyopathy, pigmentary retinopathy, dementia, hypoparathyroidism, and diabetes mellitus.
  • This mutation exhibited heteroplasmy in the patient's blood (30%) and muscle (76%), with varying levels in affected and unaffected family members.
  • The mutation was absent in healthy controls and other patients with mitochondrial disorders.

Findings:

  • The identified mutation is located at a highly conserved position within the tRNA molecule, near the common MELAS-associated mutation at position 3,243.

Related Experiment Videos

  • Both mutations are situated within a potential transcriptional control region of the mitochondrial genome.
  • The mutation's presence in affected individuals and varying levels of heteroplasmy suggest its role in disease pathogenesis.

    • Implications:

    • This discovery broadens the spectrum of mutations in the mitochondrial tRNA leucine(UUR) gene associated with mitochondrial encephalomyopathies.
    • It reinforces the hypothesis that mutations within this specific region and other mitochondrial tRNA genes can lead to complex clinical presentations.
    • Further research into this mutation could elucidate specific pathomechanisms and inform diagnostic strategies for mitochondrial disorders.