Does the prion protein gene 129 codon polymorphism influence sleep? Evidence from a fatal familial insomnia kindred.
OBJECTIVE
Experimental and clinical evidence in prion diseases suggests that the prion protein gene (PRNP) plays a role in regulating sleep.


METHODS
Seventeen healthy individuals belonging to a single fatal familial insomnia pedigree, 8 carriers and 9 non-carriers of the PRNP codon 178 mutation, underwent polysomnography and spectral electroencephalographic (EEG) analysis. All were also characterized with regard to the codon 129 polymorphism on both PRNP alleles.


RESULTS
PRNP codon 129 polymorphism exhibited influences on sleep-EEG activities. In particular, spindle frequency band power and balance between delta and spindle activity were found to correlate with the genotype of PRNP codon 129, irrespective of the mutation at codon 178.


CONCLUSIONS
Our data suggest that PRNP codon 129 polymorphism may also affect sleep in the healthy population and warrant further studies in the general population and other sleep disorders.
Plazzi
Giuseppe
G
Department of Neurological Sciences, University of Bologna, 7-40123 Bologna, Italy. plazzi@neuro.unibo.it
Montagna
Pasquale
P
Beelke
Manolo
M
Nobili
Lino
L
De Carli
Fabrizio
F
Cortelli
Pietro
P
Vandi
Stefano
S
Avoni
Patrizia
P
Tinuper
Paolo
P
Gambetti
Pierluigi
P
Lugaresi
Elio
E
Ferrillo
Franco
F
D000328:Adult; D000368:Aged; D000704:Analysis of Variance; D003062:Codon / Q000235:genetics; D004569:Electroencephalography / Q000379:methods; D006801:Humans; D034062:Insomnia, Fatal Familial / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*; D011328:Prions / Q000235:genetics*; D012044:Regression Analysis; D012890:Sleep / Q000235:genetics*
D003062:Codon; D011328:Prions