|
|||||
|
|
Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients |
|
| Authors: | Tondo Mireia Málaga Ignácio O'Callaghan Mar Serrano Mercedes Emperador Sonia Ormazabal Aida Ruiz-Pesini Eduardo Montoya Julio Garcia-Silva Maria T Martin-Hernandez Elena Garcia-Cazorla Angels Pineda Merce Artuch Rafael |
| Institution: | aNeuropediatric and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, Barcelona, Spain;bServicio de Pediatría, Hospital Universitario Central de Astúrias, Oviedo, Spain;cDepartamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain;dUnidad de Enfermedades metabólicas y mitocondriales, Hospital Universitario 12 de Octubre, Madrid, Spain;eCentre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona and Madrid, Spain |
| Abstract: | 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. |
| Keywords: | Abbreviations: CP Choroid plexus CSF Cerebrospinal fluid HVA Homovanillic acid KSS Kearns&ndash Sayre syndrome OAT-3 Organic acid transporter 3 Se Selenium 5-MTHF 5-methyltetrahidrofolate 5-HIAA 5-hydroxyindoleacetic acid |
| 本文献已被 ScienceDirect PubMed 等数据库收录！ | |