Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.
AuthorsDunning CJ, McKenzie M, Sugiana C, Lazarou M, Silke J, Connelly A, Fletcher JM, Kirby DM, Thorburn DR, Ryan MT
JournalEMBO J
PubMed ID17557076
'In humans, complex I of the respiratory chain is composed of seven mitochondrial DNA (mtDNA)-encoded and 38 nuclear-encoded subunits that assemble together in a process that is poorly defined. To date, only two complex I assembly factors have been identified and how each functions is not clear. Here, we show ... More
Calcineurin regulates skeletal muscle metabolism via coordinated changes in gene expression.
AuthorsLong YC, Glund S, Garcia-Roves PM, Zierath JR
JournalJ Biol Chem
PubMed ID17107952
'The metabolic property of skeletal muscle adapts in response to an increased physiological demand by altering substrate utilization and gene expression. The calcium-regulated serine/threonine protein phosphatase calcineurin has been implicated in the transduction of motor neuron signals to alter gene expression programs in skeletal muscle. We utilized transgenic mice that ... More
Dysregulation of mitochondrial biogenesis in vascular endothelial and smooth muscle cells of aged rats.
AuthorsUngvari Z, Labinskyy N, Gupte S, Chander PN, Edwards JG, Csiszar A,
JournalAm J Physiol Heart Circ Physiol
PubMed ID18326800
Mitochondrial biogenesis is involved in the control of cell metabolism, signal transduction, and regulation of mitochondrial reactive oxygen species (ROS) production. Despite the central role of mitochondria in cellular aging and endothelial physiology, there are no studies extant investigating age-related alterations in mitochondrial biogenesis in blood vessels. Electronmicroscopy and confocal ... More
Resveratrol induces mitochondrial biogenesis in endothelial cells.
AuthorsCsiszar A, Labinskyy N, Pinto JT, Ballabh P, Zhang H, Losonczy G, Pearson K, de Cabo R, Pacher P, Zhang C, Ungvari Z,
JournalAm J Physiol Heart Circ Physiol
PubMed ID19429820
Pathways that regulate mitochondrial biogenesis are potential therapeutic targets for the amelioration of endothelial dysfunction and vascular disease. Resveratrol was shown to impact mitochondrial function in skeletal muscle and the liver, but its role in mitochondrial biogenesis in endothelial cells remains poorly defined. The present study determined whether resveratrol induces ... More
Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I.
AuthorsIuso A, Scacco S, Piccoli C, Bellomo F, Petruzzella V, Trentadue R, Minuto M, Ripoli M, Capitanio N, Zeviani M, Papa S
JournalJ Biol Chem
PubMed ID16478720
The pathogenic mechanism of a G44A nonsense mutation in the NDUFS4 gene and a C1564A mutation in the NDUFS1 gene of respiratory chain complex I was investigated in fibroblasts from human patients. As previously observed the NDUFS4 mutation prevented complete assembly of the complex and caused full suppression of the ... More
Loss of Aif function causes cell death in the mouse embryo, but the temporal progression of patterning is normal.
AuthorsBrown D, Yu BD, Joza N, Bénit P, Meneses J, Firpo M, Rustin P, Penninger JM, Martin GR
JournalProc Natl Acad Sci U S A
PubMed ID16788063
Apoptosis-inducing factor (AIF) is an evolutionarily conserved, ubiquitously expressed flavoprotein with NADH oxidase activity that is normally confined to mitochondria. In mammalian cells, AIF is released from mitochondria in response to apoptotic stimuli and translocates to the nucleus where it is thought to bind DNA and contribute to chromatinolysis and ... More