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dc.contributor.authorSERRANO, M.
dc.contributor.authorPONS, R.
dc.contributor.authorPINEDA, M.
dc.contributor.authorFERNANDEZ-ALVAREZ, E.
dc.contributor.authorDOMINGO-JIMENEZ, R.
dc.contributor.authorDE CASTRO, P.
dc.contributor.authorARTUCH, R.
dc.contributor.authorGARCIA-CAZORLA, A.
dc.contributor.authorYapici, Zühal
dc.contributor.authorORTEZ, C.
dc.contributor.authorDuarte, S. T.
dc.contributor.authorORMAZABAL, A.
dc.contributor.authorPEREZ, A.
dc.date.accessioned2021-03-06T12:27:53Z
dc.date.available2021-03-06T12:27:53Z
dc.date.issued2015
dc.identifier.citationORTEZ C., Duarte S. T. , ORMAZABAL A., SERRANO M., PEREZ A., PONS R., PINEDA M., Yapici Z., FERNANDEZ-ALVAREZ E., DOMINGO-JIMENEZ R., et al., "Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency", MOLECULAR GENETICS AND METABOLISM, cilt.114, ss.34-40, 2015
dc.identifier.issn1096-7192
dc.identifier.othervv_1032021
dc.identifier.otherav_f3fa5262-2929-4e1f-ad43-231798aee869
dc.identifier.urihttp://hdl.handle.net/20.500.12627/159969
dc.identifier.urihttps://doi.org/10.1016/j.ymgme.2014.10.014
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 vesicular monoamine transporter (VMAT2) were measured in the CSF of 10 subjects with TH deficiency by Western blot analysis. In 3 patients, data of pre- and post-treatment with 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 CSF was significantly higher in patients with TH deficiency than in controls. Similarly, DAT and vesicular monoamine transporter type 2 were up-regulated. Studies performed before L-DOPA, 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. (C) 2014 Elsevier Inc. All rights reserved.
dc.language.isoeng
dc.subjectTıbbi Genetik
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTIP, ARAŞTIRMA VE DENEYSEL
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectİç Hastalıkları
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.subjectTıbbi Ekoloji ve Hidroklimatoloji
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.titleCerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency
dc.typeMakale
dc.relation.journalMOLECULAR GENETICS AND METABOLISM
dc.contributor.departmentCIBER - Centro de Investigacion Biomedica en Red , ,
dc.identifier.volume114
dc.identifier.issue1
dc.identifier.startpage34
dc.identifier.endpage40
dc.contributor.firstauthorID52808


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