title: Mutations in DJ-1 are rare in familial Parkinson disease.
abstract: Mutations in DJ-1 (PARK7) are one cause of early-onset autosomal-recessive parkinsonism. We screened for DJ-1 mutations in 93 affected individuals from the 64 multiplex Parkinson disease (PD) families in our sample that had the highest family-specific multipoint LOD scores at the DJ-1 locus. In addition to sequencing all coding exons for alterations, we used multiplex ligation-dependent probe amplification (MLPA) to examine the genomic copy number of DJ-1 exons. A known polymorphism (R98Q) was found in five PD subjects, once as a homozygote and in the other four cases as heterozygotes. No additional missense mutations and no exon deletions or duplications were detected. Our results, in combination with those of previous studies, suggest that alterations in DJ-1 are not a common cause of familial PD.
authors.affiliation: Indiana University Medical Center, Indianapolis, IN, USA.
authors.forename: Nathan
authors.initials: N
authors.lastname: Pankratz
authors.forename: Michael W
authors.initials: MW
authors.lastname: Pauciulo
authors.forename: Veronika E
authors.initials: VE
authors.lastname: Elsaesser
authors.forename: Diane K
authors.initials: DK
authors.lastname: Marek
authors.forename: Cheryl A
authors.initials: CA
authors.lastname: Halter
authors.forename: Joanne
authors.initials: J
authors.lastname: Wojcieszek
authors.forename: Alice
authors.initials: A
authors.lastname: Rudolph
authors.forename: Clifford W
authors.initials: CW
authors.lastname: Shults
authors.forename: Tatiana
authors.initials: T
authors.lastname: Foroud
authors.forename: William C
authors.initials: WC
authors.lastname: Nichols
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001120:Arginine / Q000235:genetics; D005091:Exons; D005260:Female; D018698:Glutamic Acid / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D015513:Oncogene Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics*; D000071617:Protein Deglycase DJ-1; D012333:RNA, Messenger / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; D012333:RNA, Messenger; D018698:Glutamic Acid; D001120:Arginine; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1