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Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred

S. Ono, T. Tanaka, M. Ishida, A. Kinoshita, J. Fukuoka, M. Takaki, N. Sakamoto, Y. Ishimatsu, S. Kohno, T. Hayashi, M. Senba, M. Yasunami, Y. Kubo, L.M. Yoshida, H. Kubo, K. Ariyoshi, K. Yoshiura, K. Morimoto
European Respiratory Journal 2011; DOI: 10.1183/09031936.00143610
S. Ono
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T. Tanaka
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M. Ishida
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A. Kinoshita
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J. Fukuoka
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M. Takaki
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N. Sakamoto
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Y. Ishimatsu
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S. Kohno
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T. Hayashi
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M. Senba
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M. Yasunami
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Y. Kubo
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L.M. Yoshida
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H. Kubo
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K. Ariyoshi
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K. Yoshiura
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K. Morimoto
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  • For correspondence: komorimo@nagasaki-u.ac.jp
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Abstract

Several mutations in surfactant protein C (SP-C) gene (SFTPC) have been reported as causing familial pulmonary fibrosis (FPF). However, the genetic background and clinical features of FPF are still not fully understood.

We identified one Japanese kindred, in which at least six individuals over three generations were diagnosed with pulmonary fibrosis. We examined the patients radiologically and histopathologically and sequenced their SFTPC and ABCA3 genes. We also established a cell line stably expressing the mutant gene.

All the patients had similar radiological and histopathological characteristics. Their histopathological feature was that of the usual interstitial pneumonia (UIP) pattern, showing numerous fibroblastic foci even in areas without abnormal radiological findings on chest HRCT. No child had respiratory symptoms in the kindred. Sequencing of SFTPC showed a novel heterozygous mutation, c.298G>A (G100S), in the BRICHOS domain of proSP-C, which co-segregated with the disease. Meanwhile in ABCA3 gene, no mutation was found. In vitro expression of the mutant gene revealed that several endoplasmic reticulum stress-related proteins were strongly expressed.

Thus, the mutation increases endoplasmic reticulum stress and induces apoptotic cell death compared with wild-type SP-C in alveolar type II cells, supporting the significance of this mutation in the pathogenesis of pulmonary fibrosis.

  • Endoplasmic reticulum stress
  • Familial pulmonary fibrosis
  • Mutation
  • Surfactant protein C
  • ERS
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Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred
S. Ono, T. Tanaka, M. Ishida, A. Kinoshita, J. Fukuoka, M. Takaki, N. Sakamoto, Y. Ishimatsu, S. Kohno, T. Hayashi, M. Senba, M. Yasunami, Y. Kubo, L.M. Yoshida, H. Kubo, K. Ariyoshi, K. Yoshiura, K. Morimoto
European Respiratory Journal Aug 2011, erj01436-2010; DOI: 10.1183/09031936.00143610

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Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred
S. Ono, T. Tanaka, M. Ishida, A. Kinoshita, J. Fukuoka, M. Takaki, N. Sakamoto, Y. Ishimatsu, S. Kohno, T. Hayashi, M. Senba, M. Yasunami, Y. Kubo, L.M. Yoshida, H. Kubo, K. Ariyoshi, K. Yoshiura, K. Morimoto
European Respiratory Journal Aug 2011, erj01436-2010; DOI: 10.1183/09031936.00143610
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