TY - JOUR
T1 - Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation.
AU - Kotarsky, Heike
AU - Karikoski, Riitta
AU - Mörgelin, Matthias
AU - Marjavaara, Sanna
AU - Bergman, Petra
AU - Zhang, De-Liang
AU - Smet, Joél
AU - van Coster, Rudy
AU - Fellman, Vineta
PY - 2010
Y1 - 2010
N2 - 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.
AB - 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.
U2 - 10.1016/j.mito.2010.05.009
DO - 10.1016/j.mito.2010.05.009
M3 - Article
SN - 1567-7249
VL - Jul 1
SP - 497
EP - 509
JO - Mitochondrion
JF - Mitochondrion
ER -