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 myopathy with progressive decrease in mitochondrial tRNA(Leu)(UUR) mutant genomes

Y Kawakami1, R Sakuta, K Hashimoto

  • 1Department of Pediatrics, Nippon Medical School, Tama Nagayama Hospital, Tokyo, Japan.

Annals of Neurology
|March 1, 1994
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

Enhanced immunity in intradermal vaccination by novel hollow microneedles.

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)·2018
Same author

Cloning and mapping of a very short (10-kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD).

Muscle & nerve. Supplement·2013
Same author

Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses.

Muscle & nerve. Supplement·2013
Same author

Characterization of the Asian myopathy patients with VCP mutations.

European journal of neurology·2011
Same author

Difference in the nature of tannins on in vitro ruminal methane and volatile fatty acid production and on methanogenic archaea and protozoal populations.

Journal of dairy science·2009
Same author

Novel FHL1 mutations in fatal and benign reducing body myopathy.

Neurology·2009

A patient with mitochondrial myopathy and a common MELAS mutation showed muscle weakness that improved with age. Muscle biopsies revealed reduced ragged-red fibers and increased enzyme activity, correlating with fewer mutant mitochondrial DNA genomes.

Area of Science:

  • Genetics
  • Neurology
  • Mitochondrial Diseases

Background:

  • Mitochondrial myopathy is a condition affecting muscle energy production.
  • The A3243G mutation in mitochondrial DNA is frequently associated with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes).

Observation:

  • A female patient presented with mitochondrial myopathy and the A3244G mitochondrial DNA mutation, but lacked central nervous system involvement typical of MELAS.
  • Muscle weakness was most pronounced at age 7 and gradually improved over time.

Findings:

  • Muscle biopsies at ages 7 and 20 showed a significant decrease in ragged-red fibers.
  • Histochemical analysis revealed increased cytochrome c oxidase activity in parallel with the reduction of mutant mitochondrial DNA genomes.

Related Experiment Videos

Implications:

  • This case highlights the phenotypic variability of the A3243G mitochondrial DNA mutation.
  • The findings suggest a potential for natural improvement in certain mitochondrial myopathies with age.
  • Reduced mutant genome load may correlate with improved muscle function and biochemical markers.