Brain-derived neurotrophic factor gene variation influences cerebrospinal fluid 3-methoxy-4-hydroxyphenylglycol concentrations in healthy volunteers

Jönsson, Erik G.; Saetre, Peter; Edman-Ahlbom, Bodil; Sillén, Anna; Gunnar, Agneta; Andreou, Dimitrios; Agartz, Ingrid; Sedvall, Göran; Hall, Håkan; Terenius, Lars

doi:10.1007/s00702-008-0113-9

Cited by 9 publications

(6 citation statements)

References 33 publications

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“…Norepinephrine has been found to be altered following prolonged alcohol intake, as reflected by presence of norepinephrine metabolites in the CSF (Borg et al, 1981). These metabolites have been found to be associated with the BDNF val66met polymorphism (Jönsson et al, 2008), raising the possibility that associations with AUD may be mediated by monoamine pathways more generally and not just dopamine and serotonin. Our sample had higher met allele (58.1%) and lower val allele (41.9%) frequencies compared to reports from other populations (Matsushita et al, 2004;Tsai et al, 2005) where the usual frequencies are 17-49% for the met allele and 51-83% for the val allele.…”

Section: Discussionmentioning

confidence: 99%

An investigation of associations between alcohol use disorder and polymorphisms on ALDH2, BDNF, 5‐HTTLPR, and MTHFR genes in older Korean men

Shin

Stewart

Ferri

et al. 2009

Int J Geriat Psychiatry

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AUD was associated with ALDH2*1 and BDNF met alleles in older Korean men. The first is consistent with previous research and likely to be explained by a protective effect of unpleasant symptoms following alcohol consumption associated with ALDH2*2. The second finding is novel and might be accounted for by BDNF-mediated serotonin or dopamine pathways. However, given the relatively small sample size, the results should be regarded as preliminary and requiring independent replication.

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Section: Discussionmentioning

confidence: 99%

An investigation of associations between alcohol use disorder and polymorphisms on ALDH2, BDNF, 5‐HTTLPR, and MTHFR genes in older Korean men

Shin

Stewart

Ferri

et al. 2009

Int J Geriat Psychiatry

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“…For example, treatment with a dual NA/5HT re-uptake inhibitor has been shown to significantly elevate BDNF levels in rodent cortex (Mannari et al, 2008). Conversely, elevation of BDNF levels, which are important for development of NA neurons (Akbarian et al, 2002; Copray et al, 1999; Guo et al, 2005) and NA turnover (Jönsson et al, 2008), may help to address depressed monoamine expression in the absence of MeCP2.…”

Section: Experimental Strategies To Treat Breathing Disorders In Mmentioning

confidence: 99%

Breathing disorders in Rett syndrome: Progressive neurochemical dysfunction in the respiratory network after birth

Katz

Dutschmann

Ramirez

et al. 2009

Respiratory Physiology & Neurobiology

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126

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Disorders of respiratory control are a prominent feature of Rett syndrome (RTT), a severely debilitating condition caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2). RTT patients present with a complex respiratory phenotype that can include periods of hyperventilation, apnea, breath holds terminated by Valsalva maneuvers, forced and deep breathing and apneustic breathing, as well as abnormalities of heart rate control and cardiorespiratory integration. Recent studies of mouse models of RTT have begun to shed light on neurologic deficits that likely contribute to respiratory dysfunction including, in particular, defects in neurochemical signaling resulting from abnormal patterns of neurotransmitter and neuromodulator expression. The authors hypothesize that breathing dysregulation in RTT results from disturbances in mechanisms that modulate the respiratory rhythm, acting either alone or in combination with more subtle disturbances in rhythm and pattern generation. This article reviews the evidence underlying this hypothesis as well as recent efforts to translate our emerging understanding of neurochemical defects in mouse models of RTT into preclinical trials of potential treatments for respiratory dysfunction in this disease.

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“…Except for oral contraceptives, all subjects were drug-free at lumbar puncture. Eight to twenty years after the first investigation, all subjects were re-interviewed to re-assess the psychiatric morbidity as previously described [20, 23]. At this interview, whole blood was drawn from all participants.…”

Section: Methodsmentioning

confidence: 99%

“…That is, the effect of potentially important confounders (back-length, weight, gender, age at lumbar puncture and presence of a lifetime psychiatric diagnosis) on CSF monoamine metabolite concentrations was evaluated by forward stepwise selection, as previously described [20]. Confounders that explained a significant part of systematic variation in CSF concentrations ( P < 0.1) were included as covariates in the genetic association analysis.…”

Section: Methodsmentioning

confidence: 99%

d-amino acid oxidase activator gene (DAOA) variation affects cerebrospinal fluid homovanillic acid concentrations in healthy Caucasians

Andreou

Saetre

Werge

et al. 2012

Eur Arch Psychiatry Clin Neurosci

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The d-amino acid oxidase activator (DAOA) protein regulates the function of d-amino oxidase (DAO), an enzyme that catalyzes the oxidative deamination of d-3,4-dihydroxyphenylalanine (D-DOPA) and d-serine. D-DOPA is converted to l-3,4-DOPA, a precursor of dopamine, whereas d-serine participates in glutamatergic transmission. We hypothesized that DAOA polymorphisms are associated with dopamine, serotonin and noradrenaline turnover in the human brain. Four single-nucleotide polymorphisms, previously reported to be associated with schizophrenia, were genotyped. Cerebrospinal fluid (CSF) samples were drawn by lumbar puncture, and the concentrations of the major dopamine metabolite homovanillic acid (HVA), the major serotonin metabolite 5-hydroxyindoleacetic acid (5-HIAA) and the major noradrenaline metabolite 3-methoxy-4-hydroxyphenylglycol (MHPG) were measured. Two of the investigated polymorphisms, rs3918342 and rs1421292, were significantly associated with CSF HVA concentrations. Rs3918342 was found to be nominally associated with CSF 5-HIAA concentrations. None of the polymorphisms were significantly associated with MHPG concentrations. Our results indicate that DAOA gene variation affects dopamine turnover in healthy individuals, suggesting that disturbed dopamine turnover is a possible mechanism behind the observed associations between genetic variation in DAOA and behavioral phenotypes in humans.

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Brain-derived neurotrophic factor gene variation influences cerebrospinal fluid 3-methoxy-4-hydroxyphenylglycol concentrations in healthy volunteers

Cited by 9 publications

References 33 publications

An investigation of associations between alcohol use disorder and polymorphisms on ALDH2, BDNF, 5‐HTTLPR, and MTHFR genes in older Korean men

An investigation of associations between alcohol use disorder and polymorphisms on ALDH2, BDNF, 5‐HTTLPR, and MTHFR genes in older Korean men

Breathing disorders in Rett syndrome: Progressive neurochemical dysfunction in the respiratory network after birth

d-amino acid oxidase activator gene (DAOA) variation affects cerebrospinal fluid homovanillic acid concentrations in healthy Caucasians

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