title: Screening for mutations of the IRP2 gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra.
abstract: IRP2 plays an important role in brain iron metabolism. We recently identified an increased amount of iron in patients with Parkinson's disease (PD) and hyperchogenicity of the substantia nigra (SN). Therefore, the IRP2 gene was screened for mutations in 176 PD patients with increased echogenicity of the SN. We identified one non-synonymous polymorphism (I888V) in exon 21 and a -88C > T polymorphism in the promoter region of IRP2 at similar frequencies in patients and controls without increased SN iron levels. In one patient a -74C > T variation was found which was not present in the control group. Our data indicate that mutations in the IRP2 gene are not a common cause of PD associated with SN iron accumulation.
authors.affiliation: Institute for Human Genetics, University of Tübingen, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Deplazes
authors.forename: K
authors.initials: K
authors.lastname: Schöbel
authors.forename: H
authors.initials: H
authors.lastname: Hochstrasser
authors.forename: P
authors.initials: P
authors.lastname: Bauer
authors.forename: U
authors.initials: U
authors.lastname: Walter
authors.forename: S
authors.initials: S
authors.lastname: Behnke
authors.forename: J
authors.initials: J
authors.lastname: Spiegel
authors.forename: G
authors.initials: G
authors.lastname: Becker
authors.forename: O
authors.initials: O
authors.lastname: Riess
authors.forename: D
authors.initials: D
authors.lastname: Berg
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007501:Iron / Q000378:metabolism; D035942:Iron Regulatory Protein 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012016:Reference Values; D015183:Restriction Mapping; D017384:Sequence Deletion
chemical_list: D007501:Iron; D035942:Iron Regulatory Protein 2