Linked Life Data

19429112

Source:http://linkedlifedata.com/resource/pubmed/id/19429112

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2009-5-11
pubmed:abstractText
DJ-1 mutations cause autosomal recessive parkinsonism (ARP). Although some reports of DJ-1 mutations have been published, there is lack of information on the prevalence of these mutations in large-scale studies of both familial and sporadic parkinsonism. In this genetic screening study, we analyzed the distribution and frequency of DJ-1 mutations by direct nucleotide sequencing of coding exons and exon-intron boundaries of DJ-1, in 386 parkin-negative parkinsonism patients (371 index cases: 67 probands of autosomal recessive parkinsonism families, 90 probands of autosomal dominant parkinsonism families, 201 patients with sporadic parkinsonism, and 13 with unknown family histories) from 12 countries (Japan 283, China 27, Taiwan 22, Korea 22, Israel 16, Turkey 5, Philippines 2, Bulgaria 2, Greece 2, Tunisia 1, USA 2, Ukraine 1, unknown 1). None had causative mutation in DJ-1, suggesting DJ-1 mutation is very rare among patients with familial and sporadic parkinsonism from Asian countries and those with other ethnic background. This is in contrast to the higher frequencies and worldwide distribution of parkin- and PINK1-related parkinsonism in ARP and sporadic parkinsonism. Thus, after obtaining clinical information, screening for mutations in (1) parkin, (2) PINK1, (3) DJ-1, (4) ATP13A2 should be conducted in that order, in ARP and sporadic parkinsonism, based on their reported frequencies. In addition, haplotype analysis should be employed to check for homozygosity of 1p36, which harbors a cluster of causative genes for ARP such as DJ-1, PINK1 and ATP13A2 in ARP and sporadic parkinsonism, especially in parkinsonism with consanguinity.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1872-7972
pubmed:author
pubmed:issnType
Electronic
pubmed:day
22
pubmed:volume
455
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
159-61
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:19429112-Chromosome Disorders, pubmed-meshheading:19429112-Cohort Studies, pubmed-meshheading:19429112-DNA Mutational Analysis, pubmed-meshheading:19429112-Female, pubmed-meshheading:19429112-Genes, Recessive, pubmed-meshheading:19429112-Genetic Markers, pubmed-meshheading:19429112-Genetic Predisposition to Disease, pubmed-meshheading:19429112-Genetic Testing, pubmed-meshheading:19429112-Humans, pubmed-meshheading:19429112-Inheritance Patterns, pubmed-meshheading:19429112-Intracellular Signaling Peptides and Proteins, pubmed-meshheading:19429112-Male, pubmed-meshheading:19429112-Mutation, pubmed-meshheading:19429112-Oncogene Proteins, pubmed-meshheading:19429112-Parkinson Disease, pubmed-meshheading:19429112-Protein Kinases, pubmed-meshheading:19429112-Proton-Translocating ATPases, pubmed-meshheading:19429112-Ubiquitin-Protein Ligases
pubmed:year
2009
pubmed:articleTitle
Mutation analysis for DJ-1 in sporadic and familial parkinsonism: screening strategy in parkinsonism.
pubmed:affiliation
Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo, Tokyo, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't