Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease.
Recently, mutations in eukaryotic translation initiation factor 4G1 (EIF4G1) were reported as a rare cause of familial Parkinson's disease (PD). We screened the 33 exons of EIF4G1 by high-resolution melting curve analysis for variants in our Central European cohort of 376 PD cases. Variant frequency was assessed in a total of 975 PD cases and 1,014 general population controls. Eight novel nonsynonymous and four synonymous variants were identified. In our cohort, novel and previously identified nonsynonymous variants were very rare. Although it is possible that our general population controls also comprise individuals who have or could develop PD in the future, the presence of the original mutation (EIF4G1 p.Arg1205 His) in three controls only, raises questions about the causality of this variant with regard to PD.
Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Ismaningerstr 22, 81675 Munich, Germany.
Eva C
EC
Schulte
Brit
B
Mollenhauer
Alexander
A
Zimprich
Benjamin
B
Bereznai
Peter
P
Lichtner
Dietrich
D
Haubenberger
Walter
W
Pirker
Thomas
T
Brücke
Maria J
MJ
Molnar
Annette
A
Peters
Christian
C
Gieger
Claudia
C
Trenkwalder
Juliane
J
Winkelmann
D000368:Aged; D015331:Cohort Studies; D039603:Eukaryotic Initiation Factor-4G / Q000235:genetics*; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D008969:Molecular Sequence Data; D010300:Parkinson Disease / Q000235:genetics*
C113920:EIF4G1 protein, human; D039603:Eukaryotic Initiation Factor-4G