Kotarsky 2010 Mitochondrion
|Kotarsky H, Karikoski R, Mörgelin M, Marjavaara S, Bergman P, Zhang DL, Smet J, van Coster R, Fellman V (2010) Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. Mitochondrion 10:497-509.|
Abstract: A homozygous mutation in the complex III chaperone BCS1L causes GRACILE syndrome (intrauterine growth restriction, aminoaciduria, cholestasis, hepatic iron overload, lactacidosis). In control and patient fibroblasts we localized BCS1L in inner mitochondrial membranes. In patient liver, kidney, and heart BCS1L and Rieske protein levels, as well as the amount and activity of complex III, were decreased. Major histopathology was found in kidney and liver with cirrhosis and iron deposition, but of iron-related proteins only ferritin levels were high. In placenta from a GRACILE fetus, the ferrooxidases ceruloplasmin and hephaestin were upregulated suggesting association between iron overload and placental dysfunction.
• Bioblast editor: Plangger M
Labels: MiParea: Respiration, nDNA;cell genetics, Patients Pathology: Inherited
Organism: Human Tissue;cell: Fibroblast Preparation: Intact cells Enzyme: Complex II;succinate dehydrogenase, Complex III, Complex IV;cytochrome c oxidase
Coupling state: LEAK, OXPHOS, ET