Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis

Ai Hattori, Naohisa Tomosugi, Yasuaki Tatsumi, Ayami Suzuki, Kazuhiko Hayashi, Yoshiaki Katano, Yasutaka Inagaki, Tetsuya Ishikawa, Hisao Hayashi, Hidemi Goto, Shinya Wakusawa

研究成果: Article査読

17 被引用数 (Scopus)

抄録

Hepcidin is an iron-regulatory hepatic peptide hormone encoded by the HAMP gene that downregulates iron export from enterocytes and macrophages into the blood plasma. In this study, we identified a novel mutation in the HAMP gene of a 58-year-old Japanese male patient with hemochromatosis. By direct sequencing of the five hereditary hemochromatosis-related genes, HFE, HAMP, HJV, TFR2, and SLC40A1, the previously unreported p.R75X mutation was identified, and the patient was found to be homozygous for the mutation. No other potentially pathogenic mutations were detected. In an LC-MS/MS analysis, hepcidin molecules were not detected in the patient's serum or urine. These results indicate that the p.R75X mutation causes iron overload by impairing the hepcidin system.

本文言語English
ページ(範囲)179-182
ページ数4
ジャーナルBlood Cells, Molecules, and Diseases
48
3
DOI
出版ステータスPublished - 15-03-2012
外部発表はい

All Science Journal Classification (ASJC) codes

  • Molecular Medicine
  • Molecular Biology
  • Hematology
  • Cell Biology

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