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Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation.

Kotarsky, Heike LU ; Karikoski, Riitta; Mörgelin, Matthias LU ; Marjavaara, Sanna; Bergman, Petra; Zhang, De-Liang; Smet, Joél; van Coster, Rudy and Fellman, Vineta LU (2010) In Mitochondrion Jul 1. p.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.
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Mitochondrion
volume
Jul 1
pages
497 - 509
publisher
Elsevier
external identifiers
  • wos:000281051500012
  • pmid:20580947
  • scopus:77955425763
ISSN
1567-7249
DOI
10.1016/j.mito.2010.05.009
language
English
LU publication?
yes
id
512ba894-8e57-47bd-8d1a-7a101ed037f5 (old id 1625658)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/20580947?dopt=Abstract
date added to LUP
2010-07-01 22:29:52
date last changed
2018-05-29 12:21:21
@article{512ba894-8e57-47bd-8d1a-7a101ed037f5,
  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.},
  author       = {Kotarsky, Heike and Karikoski, Riitta and Mörgelin, Matthias and Marjavaara, Sanna and Bergman, Petra and Zhang, De-Liang and Smet, Joél and van Coster, Rudy and Fellman, Vineta},
  issn         = {1567-7249},
  language     = {eng},
  pages        = {497--509},
  publisher    = {Elsevier},
  series       = {Mitochondrion},
  title        = {Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation.},
  url          = {http://dx.doi.org/10.1016/j.mito.2010.05.009},
  volume       = {Jul 1},
  year         = {2010},
}