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Cerebrospinal Fluid Synaptic Proteins as Useful Biomarkers in Tyrosine Hydroxylase Deficiency

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dc.contributor.authorOrtez, C
dc.contributor.authorDuarte, S
dc.contributor.authorOrmazábal, A
dc.contributor.authorSerrano, M
dc.contributor.authorPérez, A
dc.contributor.authorPons, R
dc.contributor.authorPineda, M
dc.contributor.authorYapici, Z
dc.contributor.authorFernández-Álvarez, E
dc.contributor.authorDomingo-Jiménez, R
dc.contributor.authorDe Castro, P
dc.contributor.authorArtuch, R
dc.contributor.authorGarcía-Cazorla, A
dc.date.accessioned2014-12-10T12:08:22Z
dc.date.available2014-12-10T12:08:22Z
dc.date.issued2015
dc.description.abstractTyrosine hydroxylase (TH) deficiency is an inborn error of dopamine biosynthesis and a cause of early parkinsonism. Two clinical phenotypes have been described. Type “B”: early onset severe encephalopathy; type “A”: later onset, less severe and better response to L-dopa. We aimed to study the expression of several key dopaminergic and gabaergic synaptic proteins in the cerebrospinal fluid (CSF) of a series of patients with TH deficiency and their possible relation with the clinical phenotype and response to L-DOPA. Dopamine transporter (DAT), D2-receptor and vesicularmonoamine transporter (VMAT2)weremeasured in the CSF of 10 subjectswith THdeficiency byWestern blot analysis. In 3 patients, data of pre- and post-treatmentwith L-DOPA were available, and in one of them, GABA vesicular transporter was determined. Results were compared to an age-matched control population. The concentration of D2-receptors in CSFwas significantly higher in patients with TH deficiency than in controls. Similarly, DAT and vesicular monoamine transporter type 2 were up-regulated. Studies performed before LDOPA, and on L-DOPA therapy showed a paradoxical response with D2 receptor expression increase as L-Dopa doses and homovanillic concentration gradually raised in a B phenotype patient. The opposite results were found in two patients with A phenotype. However, this is a very small sample, and further studies are needed to conclude robust differences between phenotypes. Synaptic proteins are detectable in the CSF and their quantification can be useful for understanding the pathophysiology of neurotransmitter defects and potentially to adjust and personalize treatments in the future.por
dc.identifier.citationMol Genet Metabol. 2015; 114 :34–40por
dc.identifier.urihttp://hdl.handle.net/10400.17/1962
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherElsevier Inc.por
dc.subjectTirosina 3-Mono-Oxigenasepor
dc.subjectLíquido Cefalorraquidianopor
dc.subjectNeurônios Dopaminérgicospor
dc.subjectDoença de Parkinsonpor
dc.subjectMembranas Sinápticaspor
dc.subjectCriançapor
dc.subjectHDE NEU PEDpor
dc.titleCerebrospinal Fluid Synaptic Proteins as Useful Biomarkers in Tyrosine Hydroxylase Deficiencypor
dc.typejournal article
dspace.entity.typePublication
rcaap.rightsopenAccesspor
rcaap.typearticlepor

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