Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients [artículo]
Por: García Silva, María Teresa [Unidad de Enfermedades Metabólicas y Mitocondriales]
| Martín Hernández, Elena [Unidad de Enfermedades Metabólicas y Mitocondriales].
Colaborador(es): Servicio de Pediatría-Neonatología.
Editor: Mitochondrion, 2011Descripción: 11(6):867-870.Recursos en línea: Solicitar documento Resumen: Our aim was to assess biochemical parameters to detect choroid plexus dysfunction in Kearns-Sayre syndrome (KSS) patients. We studied CSF from 7 patients with KSS including total proteins. 5-methyltetrahydrofolate, homovanillic acid (HVA) and Selenium (Se) concentrations. High Se values, increased HVA and total protein concentrations and decreased 5-MTHF values were observed in all cases. This pattern seems very specific to KSS since it was only detected in 7 patients out of 1850 CSF samples analysed, and may represent a good biochemical model for evaluating choroid plexus dysfunction. The accumulated Se in CSF might have deleterious consequences such as toxicity effects.
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Formato Vancouver:
Tondo M, Málaga I, O'Callaghan M, Serrano M, Emperador S, Ormazabal A, et al. Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients. Mitochondrion. 2011;11(6):867-70.
PMID: 21745599
Contiene 19 referencias.
Our aim was to assess biochemical parameters to detect choroid plexus dysfunction in Kearns-Sayre syndrome (KSS) patients. We studied CSF from 7 patients with KSS including total proteins. 5-methyltetrahydrofolate, homovanillic acid (HVA) and Selenium (Se) concentrations. High Se values, increased HVA and total protein concentrations and decreased 5-MTHF values were observed in all cases. This pattern seems very specific to KSS since it was only detected in 7 patients out of 1850 CSF samples analysed, and may represent a good biochemical model for evaluating choroid plexus dysfunction. The accumulated Se in CSF might have deleterious consequences such as toxicity effects.
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