Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy.
We analyzed the prion protein gene (PRNP) region in patients with transmissible spongiform encephalopathy associated with the PRNP D178N mutation. The results suggest that the D178N chromosomes had independent origins in each affected pedigree or apparently sporadic case. A de novo spontaneous PRNP mutation was observed. We provide evidence that hereditary and apparently sporadic transmissible spongiform encephalopathy cases associated with the D178N mutation result from multiple recurrent mutational events.
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Ayush
A
Dagvadorj
Robert B
RB
Petersen
Hee Suk
HS
Lee
Larisa
L
Cervenakova
Alexey
A
Shatunov
Herbert
H
Budka
Paul
P
Brown
Pierluigi
P
Gambetti
Lev G
LG
Goldfarb
D000328:Adult; D000368:Aged; D000682:Amyloid / Q000235:genetics*; D002648:Child; D005192:Family Health; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D017096:Prion Diseases / Q000235:genetics*; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D011498:Protein Precursors / Q000235:genetics*
D000682:Amyloid; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors