Journal ArticleDOI
The genetics and pathology of oxidative phosphorylation.
Reads0
Chats0
TLDR
The mitochondrial oxidative phosphorylation system is the final biochemical pathway in the production of ATP and improvements in this arena have profited from progress in various genome projects, as well as improvements in the ability to create relevant animal models.Abstract:
The mitochondrial oxidative phosphorylation (OXPHOS) system is the final biochemical pathway in the production of ATP. The OXPHOS system consists of five multiprotein complexes, the individual subunits of which are encoded either by the mitochondrial or by the nuclear genome. Defects in the OXPHOS system result in devastating, mainly multisystem, diseases, and recent years have seen the description of the underlying genetic mutations in mitochondrial and nuclear genes. Advances in this arena have profited from progress in various genome projects, as well as improvements in our ability to create relevant animal models.read more
Citations
More filters
Journal ArticleDOI
Mitochondrial Reactive Oxygen Species (ROS) and ROS-Induced ROS Release
TL;DR: The mechanism of mitochondrial RIRR highlights the central role of mitochondria-formed ROS, and all of the known ROS-producing sites and their relevance to the mitochondrial ROS production in vivo are discussed.
Journal ArticleDOI
Targeting Antioxidants to Mitochondria by Conjugation to Lipophilic Cations
TL;DR: In this article, mitochondria-targeted antioxidants have been developed by conjugating the lipophilic triphenylphosphonium cation to an antioxidant moiety, such as ubiquinol or α-tocopherol.
Journal ArticleDOI
Metabolism and function of coenzyme Q
TL;DR: This review summarizes the findings available to day concerning CoQ distribution, biosynthesis, regulatory modifications and its participation in cellular metabolism.
Journal ArticleDOI
Energy Converting NADH: Quinone Oxidoreductase (Complex I)
TL;DR: The coupling mechanism of complex I most likely involves semiquinone intermediates that drive proton pumping through redox-linked conformational changes.
Journal ArticleDOI
Mitochondrial dysfunction as a cause of optic neuropathies
TL;DR: The recent identification of mutations in the nuclear gene OPA1 as the causative factor in dominant optic atrophy (DOA) brought the unexpected finding that this gene encodes for a mitochondrial protein, suggesting that DOA and LHON may be linked by similar pathogenesis.
References
More filters
Journal ArticleDOI
Sequence and organization of the human mitochondrial genome
Stephen Anderson,Alan T. Bankier,Bart Barrell,M.H.L. de Bruijn,Alan Coulson,J. Drouin,J. Drouin,Ian C. Eperon,Donald P. Nierlich,Donald P. Nierlich,Bruce A. Roe,Bruce A. Roe,Frederick Sanger,P. H. Schreier,Andrew J.H. Smith,Rodger Staden,Ian G. Young,Ian G. Young +17 more
TL;DR: The complete sequence of the 16,569-base pair human mitochondrial genome is presented and shows extreme economy in that the genes have none or only a few noncoding bases between them, and in many cases the termination codons are not coded in the DNA but are created post-transcriptionally by polyadenylation of the mRNAs.
Journal ArticleDOI
Mechanisms Controlling Mitochondrial Biogenesis and Respiration through the Thermogenic Coactivator PGC-1
Zhidan Wu,Pere Puigserver,Ulf Andersson,Chen-Yu Zhang,Guillaume Adelmant,Vamsi K. Mootha,Amy E Troy,Saverio Cinti,Bradford B. Lowell,Richard C. Scarpulla,Bruce M. Spiegelman +10 more
TL;DR: PGC-1, a cold-inducible coactivator of nuclear receptors, stimulates mitochondrial biogenesis and respiration in muscle cells through an induction of uncoupling protein 2 (UCP-2) and through regulation of the nuclear respiratory factors (NRFs).
Journal ArticleDOI
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
Journal ArticleDOI
Mitochondrial diseases in man and mouse.
TL;DR: The essential role of mitochondrial oxidative phosphorylation in cellular energy production, the generation of reactive oxygen species, and the initiation of apoptosis has suggested a number of novel mechanisms for mitochondrial pathology.
Journal ArticleDOI
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
Douglas C. Wallace,Gurparkash Singh,Marie T. Lott,Judy A. Hodge,Theodore G. Schurr,Angela M. S. Lezza,Louis J. Elsas,Eeva K. Nikoskelainen +7 more
TL;DR: This finding demonstrated that a nucleotide change in a mitochondrial DNA energy production gene can result in a neurological disease.