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dc.contributor.authorYamaguchi, Makija
dc.contributor.authorKataoka, Tatsuki R.ja
dc.contributor.authorShibayama, Takahiroja
dc.contributor.authorFukuda, Akinarija
dc.contributor.authorNakazawa, Atsukoja
dc.contributor.authorMinamiguchi, Sachikoja
dc.contributor.authorSakurai, Takakija
dc.contributor.authorMiyagawa-Hayashino, Ayaja
dc.contributor.authorYorifuji, Toruja
dc.contributor.authorKasahara, Mureoja
dc.contributor.authorUemoto, Shinjija
dc.contributor.authorHaga, Hironorija
dc.contributor.alternative片岡, 竜貴ja
dc.contributor.alternative南口, 早智子ja
dc.contributor.alternative桜井, 孝規ja
dc.contributor.alternative林野, 文ja
dc.contributor.alternative羽賀, 博典ja
dc.description.abstractThe 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.ja
dc.publisherBlackwell Publishingja
dc.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.ja
dc.subjectHep Par 1ja
dc.subjectLiver transplantationja
dc.titleLoss of Hep Par 1 immunoreactivity in the livers of patients with carbamoyl phosphate synthetase 1 deficiencyja
dc.type.niitypeJournal Articleja
dc.identifier.jtitlePathology Internationalja
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