Pro→Leu change at position 102 of prinon protein is the most common but not the sole mutation related to Gerstmann-Sträussler syndrome

Katsumi Doh-ura, Jun Tateishi, Hiroyuki Sasaki, Tetsuyuki Kitamoto, Yoshiyuki Sakaki

研究成果: Contribution to journalArticle

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The host-encoded prion protein (PrP) is a component of transmissible amyloid deposited in the brains affected by Gerstmann-Sträussler syndrome (GSS). Recently GSS in two unrelated Caucasian families has been reported to be linked to an amino acid change in PrP codon 102, proline to leucine (Leu102). However, it has not been clear whether the change is commonly found to GSS regardless of ethnic origin. We report here that Leu102 is also found in all the Japanese GSS patients tested. Interestingly, one French GSS patient was found to have another change, alanine to valine in codon 117 (Val117), instead of Leu102. Our results indicate that Leu102 is closely related to GSS irrespective of ethnic origin, but not the sole mutation related to GSS. Val117 may also be related to GSS.

元の言語英語
ページ(範囲)974-979
ページ数6
ジャーナルBiochemical and Biophysical Research Communications
163
発行部数2
DOI
出版物ステータス出版済み - 9 15 1989

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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