TY - JOUR
T1 - Pro→Leu change at position 102 of prinon protein is the most common but not the sole mutation related to Gerstmann-Sträussler syndrome
AU - Doh-ura, Katsumi
AU - Tateishi, Jun
AU - Sasaki, Hiroyuki
AU - Kitamoto, Tetsuyuki
AU - Sakaki, Yoshiyuki
N1 - Funding Information:
We thank Drs. J. W. Boellaard, H. Hashiguchi, G. Heldt, S. Kuzuhara, A. Morisada, S. Motomura, T. Muro, Y. Shii, G. Steinmetz, M. Suetsugu, H. Umezaki, J. M. Warter, S. Yagishita, N. Yamamura, and T. Yoshimura for providing us with blood and tissue samples. We are also grateful to Drs. T. Yamada and H. Furuya for their helpful suggestions and discussions, and to Ms. H. Ohgusu for preparing oligonucleotides. This work was supported by grants from the ministry of Education, Sciences and Culture, Japan and the Kato Memorial Trust for Nambyo Research.
PY - 1989/9/15
Y1 - 1989/9/15
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0024473899&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0024473899&partnerID=8YFLogxK
U2 - 10.1016/0006-291X(89)92317-6
DO - 10.1016/0006-291X(89)92317-6
M3 - Article
C2 - 2783132
AN - SCOPUS:0024473899
VL - 163
SP - 974
EP - 979
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 2
ER -