Methionine homozygosity for PRNP polymorphism and susceptibility to human prion diseases.

Koki Kosami Ryusuke Ae Tsuyoshi Hamaguchi Nobuo SanjoTadashi TsukamotoTetsuyuki KitamotoMasahito YamadaHidehiro MizusawaYosikazu Nakamura

Published in: Journal of neurology, neurosurgery, and psychiatry (2022)

Methionine homozygosity at codon 129 was predisposing to sporadic CJD, but protective against genetic CJD and GSS, after adjustment for codon 219 polymorphism effect. However, the impacts differed completely among patients with specific prion protein abnormalities.

Keyphrases

amino acid
endothelial cells
late onset
induced pluripotent stem cells
genome wide
pluripotent stem cells
protein protein
amyotrophic lateral sclerosis
gene expression
dna methylation