title: The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.
abstract: Recently an Ile93Met mutation in the ubiquitin-carboxy-terminal-hydrolase-L1 gene (UCH-L1) has been described in a German family with Parkinson's disease (PD). The authors showed that this mutation is responsible for an impaired proteolytic activity of the UCH-L1 protein and may lead to an abnormal aggregation of proteins in the brain. In order to determine the importance of this or any other mutation in the coding region of the UCH-L1 gene in PD, we performed mutation analysis on Caucasian families with at least two affected sibs. We did not detect any mutations in the UCH-L1 gene, however, we cannot exclude mutations in the regulatory or intronic regions of the UCH-L1 gene since these regions were not sequenced. We conclude that the UCH-L1 gene is not a major gene responsible for familial PD.
authors.affiliation: Department of Epidemiology & Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands.
authors.forename: B S
authors.initials: BS
authors.lastname: Harhangi
authors.forename: M J
authors.initials: MJ
authors.lastname: Farrer
authors.forename: S
authors.initials: S
authors.lastname: Lincoln
authors.forename: V
authors.initials: V
authors.lastname: Bonifati
authors.forename: G
authors.initials: G
authors.lastname: Meco
authors.forename: G
authors.initials: G
authors.lastname: De Michele
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: A
authors.initials: A
authors.lastname: Dürr
authors.forename: M
authors.initials: M
authors.lastname: Martinez
authors.forename: T
authors.initials: T
authors.lastname: Gasser
authors.forename: B
authors.initials: B
authors.lastname: Bereznai
authors.forename: J R
authors.initials: JR
authors.lastname: Vaughan
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
authors.forename: J
authors.initials: J
authors.lastname: Hardy
authors.forename: B A
authors.initials: BA
authors.lastname: Oostra
authors.forename: M M
authors.initials: MM
authors.lastname: Breteler
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution; D017931:DNA Primers; D005091:Exons; D005260:Female; D005602:France; D005858:Germany; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D009426:Netherlands; D009679:Nuclear Family; D010300:Parkinson Disease / Q000201:enzymology / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013869:Thiolester Hydrolases / Q000737:chemistry / Q000235:genetics*; D043222:Ubiquitin Thiolesterase; D044465:White People / Q000235:genetics*
chemical_list: D017931:DNA Primers; D009419:Nerve Tissue Proteins; D013869:Thiolester Hydrolases; D043222:Ubiquitin Thiolesterase