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Genetic and Functio...
Genetic and Functional Study of L-Type Amino Acid Transporter 1 in Schizophrenia
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- Comasco, Erika, 1982- (author)
- Uppsala universitet,Neuropsykofarmakologi
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- Vumma, Ravi (author)
- Linnéuniversitetet,Institutionen för kemi och biomedicin (KOB),Linnaeus Univ, Fac Hlth & Life Sci, Dept Chem & Biomed Sci, Kalmar, Sweden.
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- Toffoletto, R. (author)
- Department of Neuroscience, Uppsala University, Uppsala, Sweden
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- Johansson, Jessica, 1977- (author)
- Örebro universitet,Institutionen för hälsovetenskaper,Department of Clinical Medicine, Faculty of Health and Medical Sciences, Örebro University, Örebro, Sweden,Exprimentell Neuropsykiatri,Orebro Univ, Sch Hlth & Med Sci, Dept Clin Med, SE-70182 Orebro, Sweden.
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- Flyckt, Lena (author)
- Karolinska Institutet
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- Lewander, Tommy (author)
- Department of Clinical Medicine, School of Health and Medical Sciences, Örebro University, Örebro, Sweden,Orebro Univ, Sch Hlth & Med Sci, Dept Clin Med, SE-70182 Orebro, Sweden.
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- Oreland, Lars (author)
- Uppsala universitet,Neuropsykofarmakologi,Stromstad Acad, Stromstad, Sweden.
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- Bjerkenstedt, Lars (author)
- Strömstad Academy, Strömstad, Sweden
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- Andreou, Dimitrios (author)
- Karolinska Institutet
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- Söderman, Erik (author)
- Department of Clinical Neuroscience, Centre for Psychiatric Research, Karolinska Institutet, Stockholm, Sweden,Karolinska Inst, Ctr Psychiat Res, Dept Clin Neurosci, Stockholm, Sweden.
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- Terenius, Lars (author)
- Karolinska Institutet
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- Agartz, Ingrid (author)
- Karolinska Institutet
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- Jönsson, Erik G. (author)
- Karolinska Institutet
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- Venizelos, Nikolaos, 1946- (author)
- Örebro universitet,Institutionen för hälsovetenskaper,Experimentell neuropsykiatri,Örebro university,Orebro Univ, Sch Hlth & Med Sci, Dept Clin Med, SE-70182 Orebro, Sweden.
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- Toffoletto, Simone (author)
- Uppsala universitet,Neuropsykofarmakologi
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(creator_code:org_t)
- 2017-02-11
- 2017
- English.
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In: Neuropsychobiology. - Basel : S. Karger. - 0302-282X .- 1423-0224. ; 74:2, s. 96-103
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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https://urn.kb.se/re...
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http://kipublication...
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Abstract
Subject headings
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- Schizophrenia involves neural catecholaminergic dysregulation. Tyrosine is the precursor of catecholamines, and its major transporter, according to studies on fibroblasts, in the brain is the L-type amino acid transporter 1 (LAT1). The present study assessed haplotype tag single-nucleotide polymorphisms (SNPs) of the SLC7A5/LAT1 gene in 315 patients with psychosis within the schizophrenia spectrum and 233 healthy controls to investigate genetic vulnerability to the disorder as well as genetic relationships to homovanillic acid (HVA) and 3-methoxy-4-hydroxyphenylglycol (MHPG), the major catecholamine metabolites in the cerebrospinal fluid (CSF). Moreover, the involvement of the different isoforms of the system L in tyrosine uptake and LAT1 tyrosine kinetics were studied in fibroblast cell lines of 10 patients with schizophrenia and 10 healthy controls. The results provide suggestive evidence of individual vulnerability to schizophrenia related to the LAT1 SNP rs9936204 genotype. A number of SNPs were nominally associated with CSF HVA and MHPG concentrations but did not survive correction for multiple testing. The LAT1 isoform was confirmed as the major tyrosine transporter in patients with schizophrenia. However, the kinetic parameters (maximal transport capacity, affinity of the binding sites, and diffusion constant of tyrosine transport through the LAT1 isoform) did not differ between patients with schizophrenia and controls. The present genetic findings call for independent replication in larger samples, while the functional study seems to exclude a role of LAT1 in the aberrant transport of tyrosine in fibroblasts of patients with schizophrenia.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
- SAMHÄLLSVETENSKAP -- Psykologi (hsv//swe)
- SOCIAL SCIENCES -- Psychology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
Keyword
- Amino acid transporter light chain system L; Fibroblasts; L-Type amino acid transporter 1; Schizophrenia; Single-nucleotide polymorphism; Tyrosine
- Psychiatry
- Psykiatri
- Genetik
- Genetics
- Biomedicin
- Biomedicine
- Medicin
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Comasco, Erika, ...
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Vumma, Ravi
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Toffoletto, R.
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Johansson, Jessi ...
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Flyckt, Lena
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Lewander, Tommy
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show more...
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Oreland, Lars
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Bjerkenstedt, La ...
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Andreou, Dimitri ...
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Söderman, Erik
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Terenius, Lars
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Agartz, Ingrid
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Jönsson, Erik G.
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Venizelos, Nikol ...
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Toffoletto, Simo ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Psychiatry
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- SOCIAL SCIENCES
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SOCIAL SCIENCES
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and Psychology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Cell and Molecul ...
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Neuropsychobiolo ...
- By the university
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Örebro University
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Linnaeus University
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Uppsala University
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Karolinska Institutet