title: Polymorphisms in genes encoding the serotonin and dopamine pathways in two sisters with metachromatic leukodystrophy.
abstract: Metachromatic leukodystrophy (MLD) is a metabolic disease that has recently been investigated as a model for the study of psychosis. We report on two sisters with adult-type MLD who developed psychiatric symptomatology, but differed in their expression of psychotic and depressive symptoms. Association studies have indicated that polymorphisms in genes encoding the serotonin and dopamine transporters and receptors are related to the symptomatology of schizophrenia and/or depression; hence both sisters were genotyped for some of these candidate genes. The sisters shared dopamine receptor D(2) (DRD(2)) c.1047GG (p.311Ser/Ser) and c.-141Cins/ins polymorphisms, which are significantly associated with schizophrenia, but differed in the serotonin transporter gene-linked polymorphic region and serotonin receptor 1A (5-HT(1A)) c.-1019C to G polymorphisms, which may have increased the elder sister's susceptibility to depressive symptoms. Much bigger samples would be needed to gain enough statistical power to develop any hypotheses. This is the first report on genotyping MLD patients for candidate genes for psychiatric disorders, although MLD has been proposed as a model for schizophrenia.
authors.affiliation: Department of Paediatrics, Child and Adolescent Psychiatry Unit, University Clinical Centre Maribor, Maribor, Slovenia. hojka.kumperscak@ukc-mb.si
authors.forename: H G
authors.initials: HG
authors.lastname: Kumperscak
authors.forename: V
authors.initials: V
authors.lastname: Dolzan
authors.forename: A
authors.initials: A
authors.lastname: Videtic
authors.forename: B K
authors.initials: BK
authors.lastname: Plesnicar
mesh_terms: D000328:Adult; D003863:Depression / Q000235:genetics / Q000503:physiopathology; D004298:Dopamine / Q000378:metabolism; D050483:Dopamine Plasma Membrane Transport Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005838:Genotype; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000235:genetics* / Q000503:physiopathology* / Q000523:psychology; D011110:Polymorphism, Genetic; D012559:Schizophrenia / Q000235:genetics / Q000503:physiopathology; D012701:Serotonin / Q000378:metabolism; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D050483:Dopamine Plasma Membrane Transport Proteins; D050486:Serotonin Plasma Membrane Transport Proteins; D012701:Serotonin; D004298:Dopamine