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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2011-2-15
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pubmed:abstractText |
We present results of mutation screening of PRKN gene in 93 Iranian Parkinson's disease (PD) patients with average age at onset (AAO) of 42.2 years. The gene was screened by direct sequencing and by a semi-quantitative PCR protocol for detection of sequence rearrangements. Heterozygous rearrangements were tested by reverse transcription-polymerase chain reaction (RT-PCR). Nine different PRKN mutations were found. One of these, IVS9+1G>A, affects splicing and is novel. Two mutated PRKN alleles were observed in each of 6 patients whose average AAO was 25.7 years. Only 1 patient carried a single mutated allele and his AAO was 41 years. Among patients with AAO of <30 years, 31.3% had two mutated alleles, while only 2.6% with AAO of >30 years carried a PRKN mutation. Analysis of PRKN by RT-PCR led to identification of a novel exon expressed in leukocytes of control and PD individuals. The alternatively spliced transcript if translated would code a protein without a RING Finger 2 domain. Its functional relevance remains to be shown. DJ-I and PINK1 were also screened. Two novel DJ-1 mutations, c.91-2A>G affecting splicing and c.319G>C causing Ala107Pro, were observed among patients with AAO of <31 years, suggesting that PD in a high fraction (>12%) of this group of Iranian patients may be due to mutations in DJ-1. Mutations in PINK1 were not observed. Our results complement previous findings on LRRK2 mutations among Iranian PD patients.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Intracellular Signaling Peptides...,
http://linkedlifedata.com/resource/pubmed/chemical/Lactones,
http://linkedlifedata.com/resource/pubmed/chemical/Oncogene Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/PARK7 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/PTEN-induced putative kinase,
http://linkedlifedata.com/resource/pubmed/chemical/Protein Kinases,
http://linkedlifedata.com/resource/pubmed/chemical/Terpenes,
http://linkedlifedata.com/resource/pubmed/chemical/Ubiquitin-Protein Ligases,
http://linkedlifedata.com/resource/pubmed/chemical/genepolide,
http://linkedlifedata.com/resource/pubmed/chemical/parkin protein
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1531-8257
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pubmed:author |
pubmed-author:BanihosseiniSetareh SadatSS,
pubmed-author:FazlaliZeinabZ,
pubmed-author:GhaemiNasserN,
pubmed-author:GhazaviFarzanehF,
pubmed-author:HosseiniSayed-RzgarSR,
pubmed-author:KazemiMohammad HosseinMH,
pubmed-author:NBB,
pubmed-author:ParsaKhosroK,
pubmed-author:RohaniMohammadM,
pubmed-author:RonaghiMostafaM,
pubmed-author:SadeghiHomaH,
pubmed-author:ShahidiGholam-AliGA,
pubmed-author:ShojaeeSeyedmehdiS,
pubmed-author:SinaFarzadF
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pubmed:copyrightInfo |
Copyright © 2010 Movement Disorder Society.
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pubmed:issnType |
Electronic
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pubmed:volume |
26
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
80-9
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pubmed:meshHeading |
pubmed-meshheading:21322020-Adolescent,
pubmed-meshheading:21322020-Adult,
pubmed-meshheading:21322020-Age of Onset,
pubmed-meshheading:21322020-Aged,
pubmed-meshheading:21322020-Child,
pubmed-meshheading:21322020-Female,
pubmed-meshheading:21322020-Gene Frequency,
pubmed-meshheading:21322020-Genetic Predisposition to Disease,
pubmed-meshheading:21322020-Genome-Wide Association Study,
pubmed-meshheading:21322020-Humans,
pubmed-meshheading:21322020-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:21322020-Iran,
pubmed-meshheading:21322020-Lactones,
pubmed-meshheading:21322020-Male,
pubmed-meshheading:21322020-Middle Aged,
pubmed-meshheading:21322020-Mutation,
pubmed-meshheading:21322020-Oncogene Proteins,
pubmed-meshheading:21322020-Parkinson Disease,
pubmed-meshheading:21322020-Protein Kinases,
pubmed-meshheading:21322020-Terpenes,
pubmed-meshheading:21322020-Ubiquitin-Protein Ligases,
pubmed-meshheading:21322020-Young Adult
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pubmed:year |
2011
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pubmed:articleTitle |
PRKN, DJ-1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ-1 mutations.
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pubmed:affiliation |
Department of Cell and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran, Iran.
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pubmed:publicationType |
Journal Article
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