Linked Life Data

10822345

Source:http://linkedlifedata.com/resource/pubmed/id/10822345

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2000-8-3
pubmed:abstractText
For several decades, lithium has been the drug of choice in the long-term treatment of manic-depressive illness, but the molecular mechanism(s) mediating its therapeutic effects remain to be determined. The enzyme myo-inositol monophosphatase (IMPase) in the phospholipase C signaling system is inhibited by lithium at therapeutically relevant concentrations, and is a candidate target of lithium's mood-stabilizing action. Two genes encoding human IMPases have so far been isolated, namely IMPA1 on chromosome 8q21. 13-21.3 and IMPA2 on chromosome 18p11.2. Interestingly, several studies have indicated the presence of a susceptibility locus for bipolar disorder on chromosome 18p11.2. IMPA2 is therefore a candidate for genetic studies on both etiology and lithium treatment of manic-depressive illness. Here we report that the genomic structure of IMPA2 is composed of eight exons, ranging in size from 46 bp to 535 bp. The promoter region contains several Sp1 elements and lacks a TATA-box, features typical for housekeeping genes. By a preliminary polymorphism screening of exons 2-8 in a sample of 23 Norwegian bipolar patients, we have identified nine single nucleotide polymorphisms (SNPs). Seven of the polymorphisms were located in the introns, one was a silent transition in exon 2 (159T>C) and one was a transition in exon 5 (443G>A) resulting in a predicted amino acid substitution (R148Q). Our data show that even in a small sample of bipolar patients, several variants of the IMPA2 gene can be identified. IMPA2 is therefore an intriguing candidate gene for future association studies of manic-depressive illness.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1359-4184
pubmed:author
pubmed:issnType
Print
pubmed:volume
5
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
172-80
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:10822345-Base Sequence, pubmed-meshheading:10822345-Bipolar Disorder, pubmed-meshheading:10822345-Chromosome Mapping, pubmed-meshheading:10822345-Chromosomes, Human, Pair 18, pubmed-meshheading:10822345-Chromosomes, Human, Pair 8, pubmed-meshheading:10822345-Cloning, Molecular, pubmed-meshheading:10822345-DNA Primers, pubmed-meshheading:10822345-Exons, pubmed-meshheading:10822345-Genetic Predisposition to Disease, pubmed-meshheading:10822345-Genetic Testing, pubmed-meshheading:10822345-Humans, pubmed-meshheading:10822345-Molecular Sequence Data, pubmed-meshheading:10822345-Mutation, pubmed-meshheading:10822345-Phosphoric Monoester Hydrolases, pubmed-meshheading:10822345-Polymerase Chain Reaction, pubmed-meshheading:10822345-Polymorphism, Genetic, pubmed-meshheading:10822345-Sequence Deletion
pubmed:year
2000
pubmed:articleTitle
A human myo-inositol monophosphatase gene (IMPA2) localized in a putative susceptibility region for bipolar disorder on chromosome 18p11.2: genomic structure and polymorphism screening in manic-depressive patients.
pubmed:affiliation
Dr Einar Martens' Research Group for Biological Psychiatry, Center for Molecular Medicine, Bergen, Norway.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't