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Title: Loss of Hep Par 1 immunoreactivity in the livers of patients with carbamoyl phosphate synthetase 1 deficiency
Authors: Yamaguchi, Maki
Kataoka, Tatsuki R.
Shibayama, Takahiro
Fukuda, Akinari
Nakazawa, Atsuko
Minamiguchi, Sachiko  kyouindb  KAKEN_id
Sakurai, Takaki  kyouindb  KAKEN_id
Miyagawa-Hayashino, Aya
Yorifuji, Toru
Kasahara, Mureo
Uemoto, Shinji  kyouindb  KAKEN_id
Haga, Hironori  kyouindb  KAKEN_id
Author's alias: 片岡, 竜貴
南口, 早智子
桜井, 孝規
林野, 文
羽賀, 博典
Keywords: CPS1
Hep Par 1
Liver transplantation
Issue Date: Jun-2016
Publisher: Blackwell Publishing
Journal title: Pathology International
Volume: 68
Issue: 8
Start page: 333
End page: 336
Abstract: The hepatocyte paraffin 1 (Hep Par 1) antibody is widely used as a hepatocyte marker, recognizing carbamoyl phosphate synthetase 1 (CPS1), an essential component of the urea cycle. Various missense, nonsense, and frameshift mutations occur in the CPS1 gene. In neonatal patients with homozygous CPS1 deficiency (CPS1D), urea cycle defects with resulting severe hyperammonemia can be fatal, though liver transplantation provides a complete cure for CPS1D. We performed Hep Par 1 immunostaining in the explanted livers of 10 liver transplant patients with CPS1D. Seven were negative for Hep Par 1 in the hepatocytes and the other three showed normal diffuse granular cytoplasmic staining. As expected, all three Hep Par 1-positive patients had at least one missense mutation, and all four patients who had only nonsense or frameshift mutations were Hep Par 1-negative. The other three patients were unexpectedly negative for Hep Par 1, even though each had one missense mutation. These results suggest that CPS1D can be related to the loss of Hep Par 1 reactivity due to the loss of protein production, a one amino acid substitution resulting in an abortive protein product, or both. Hep Par 1 immunohistochemistry can be used as a simple method to confirm CPS1D.
Rights: © 2016 The Authors. Pathology International published by Japanese Society of Pathology andJohn Wiley & Sons Australia, Ltd.This is an open access article under the terms of the Creative CommonsAttribution-NonCommercial-NoDerivs License, which permits use anddistribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations aremade.
URI: http://hdl.handle.net/2433/216061
DOI(Published Version): 10.1111/pin.12414
Appears in Collections:Journal Articles

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