کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2068901 1078364 2010 13 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیوفیزیک
پیش نمایش صفحه اول مقاله
Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Mitochondrion - Volume 10, Issue 5, August 2010, Pages 497–509
نویسندگان
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