J Korean Child Neurol Soc Search


Journal of the Korean Child Neurology Society 2007;15(1):11-19.
Published online May 30, 2007.
Mitochondrial Disorders.
Young Mock Lee
Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea. ymleemd@yumc.yonsei.ac.kr
Mitochondria contain respiratory chain enzyme complexes that carry out oxidative phosphorylation and produce a main part of cellular energy in the form of ATP. Mitochondrial disorders occur either due to sporadic or inherited mutations of the genes located in the nuclear or mitochondrial DNA or due to other exogenous factors. Although several proteins related with signalling, assembling, transporting, and enzymatic functions can be impaired in mitochondrial disorders, most frequently the activity of the respiratory chain protein complexes is primarily or secondarily affected, leading to impaired oxygen utilization and reduced energy production. Mitochondrial disorders usually show a chronic and slowly progressive course and present with multiorgan involvement with varying onsets between birth and late adulthood. They represent a diagnostic challenge because of their wide variations in the presentation and the course. The systems frequently affected in mitochondrial disorders are the peripheral nervous system, brain, endocrine system, heart, eyes, ears, guts, kidneys and bone marrow. Although there is actually no specific therapy and cure for mitochondrial disorders, the rapidly increasing understanding of the pathophysiological background of mitochondrial disorders may further facilitate the diagnostic approach and open perspectives to the future and possibly causative therapies.
Key Words: Mitochondria, Energy metabolism, Mitochondrial disorder, mtDNA
Share :
Facebook Twitter Linked In Google+ Line it
METRICS Graph View
  • 599 View
  • 2 Download
Related articles in Ann Child Neurol

Mitochondrial Disorders.2001 May;9(1)


Browse all articles >

Editorial Office
101, Daehak-ro, Jongno-gu, Seoul 03080, Korea
Tel: +82-2-2072-2364    Fax: +82-2-743-3455    E-mail: editor@annchildneurol.org                

Copyright © 2022 by Korean Child Neurology Society.

Developed in M2PI

Close layer
prev next