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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1625658
- author
- Kotarsky, Heike
LU
; Karikoski, Riitta
; Mörgelin, Matthias
LU
; Marjavaara, Sanna
; Bergman, Petra
; Zhang, De-Liang
; Smet, Joél
; van Coster, Rudy
and Fellman, Vineta
LU
- organization
- publishing date
- 2010
- 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
- 2016-04-04 08:16:07
- date last changed
- 2022-03-07 21:23:53
@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}},
doi = {{10.1016/j.mito.2010.05.009}},
volume = {{Jul 1}},
year = {{2010}},
}