Serum uric acid in Friedreich Ataxia

Research output: Contribution to journalArticle

Abstract

Serum uric acid (UA) is a circulating antioxidant whose levels are typically lower in patients with idiopathic neurodegenerative diseases than healthy controls, reflecting a higher oxidative stress. Here we provided the first assessment of serum UA in Friedreich Ataxia (FRDA), an inherited neurodegenerative disorder, aimed at exploring novel disease biomarkers. Serum UA was measured in 19 FRDA patients and compared to 26 healthy controls (CTL). Multivariate analysis was conducted to eliminate main confounding factors (age, gender and BMI). Diagnostic accuracy was tested with ROC curve analysis and cut-off point calculation. Clinical predictive value was quantified by means Spearman's correlation with SARA score and other clinical parameters. Serum UA levels resulted significantly higher in FRDA than CTL (p = .016), independently from age, gender and BMI. At the cut-off value of 4.45 mg/dl, serum UA discriminates FRDA from CTL with >70% of sensitivity and >60% of specificity. No correlations emerged with clinical data. Contrarily to other neurodegenerative diseases, in FRDA, we observed an independent increase of serum UA content. Taking in account previous experimental findings, we hypothesize that such a finding may result from biochemical impairment induced by the genetic defect, acting as a sort of compensatory antioxidant defense although proper dedicated studies are mandatory. This preliminary report focuses UA as a potential biomarker for FRDA and encourages further studies on novel therapeutic strategies.

Original languageEnglish
Pages (from-to)139-141
Number of pages3
JournalClinical Biochemistry
Volume54
DOIs
Publication statusPublished - Apr 2018

Fingerprint

Friedreich Ataxia
Uric Acid
Serum
Neurodegenerative Diseases
Neurodegenerative diseases
Biomarkers
ROC Curve
Antioxidants
Oxidative stress
Age Factors
Oxidative Stress
Multivariate Analysis
Defects

Keywords

  • Adolescent
  • Adult
  • Biomarkers
  • Child
  • Databases, Factual
  • Female
  • Friedreich Ataxia/blood
  • Humans
  • Male
  • Retrospective Studies
  • Uric Acid/blood

Cite this

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title = "Serum uric acid in Friedreich Ataxia",
abstract = "Serum uric acid (UA) is a circulating antioxidant whose levels are typically lower in patients with idiopathic neurodegenerative diseases than healthy controls, reflecting a higher oxidative stress. Here we provided the first assessment of serum UA in Friedreich Ataxia (FRDA), an inherited neurodegenerative disorder, aimed at exploring novel disease biomarkers. Serum UA was measured in 19 FRDA patients and compared to 26 healthy controls (CTL). Multivariate analysis was conducted to eliminate main confounding factors (age, gender and BMI). Diagnostic accuracy was tested with ROC curve analysis and cut-off point calculation. Clinical predictive value was quantified by means Spearman's correlation with SARA score and other clinical parameters. Serum UA levels resulted significantly higher in FRDA than CTL (p = .016), independently from age, gender and BMI. At the cut-off value of 4.45 mg/dl, serum UA discriminates FRDA from CTL with >70{\%} of sensitivity and >60{\%} of specificity. No correlations emerged with clinical data. Contrarily to other neurodegenerative diseases, in FRDA, we observed an independent increase of serum UA content. Taking in account previous experimental findings, we hypothesize that such a finding may result from biochemical impairment induced by the genetic defect, acting as a sort of compensatory antioxidant defense although proper dedicated studies are mandatory. This preliminary report focuses UA as a potential biomarker for FRDA and encourages further studies on novel therapeutic strategies.",
keywords = "Adolescent, Adult, Biomarkers, Child, Databases, Factual, Female, Friedreich Ataxia/blood, Humans, Male, Retrospective Studies, Uric Acid/blood",
author = "Tommaso Schirinzi and Gessica Vasco and Ginevra Zanni and Sara Petrillo and Fiorella Piemonte and Enrico Castelli and Bertini, {Enrico Silvio}",
note = "Copyright {\circledC} 2018 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.",
year = "2018",
month = "4",
doi = "10.1016/j.clinbiochem.2018.01.022",
language = "English",
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pages = "139--141",
journal = "Clinical Biochemistry",
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TY - JOUR

T1 - Serum uric acid in Friedreich Ataxia

AU - Schirinzi, Tommaso

AU - Vasco, Gessica

AU - Zanni, Ginevra

AU - Petrillo, Sara

AU - Piemonte, Fiorella

AU - Castelli, Enrico

AU - Bertini, Enrico Silvio

N1 - Copyright © 2018 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

PY - 2018/4

Y1 - 2018/4

N2 - Serum uric acid (UA) is a circulating antioxidant whose levels are typically lower in patients with idiopathic neurodegenerative diseases than healthy controls, reflecting a higher oxidative stress. Here we provided the first assessment of serum UA in Friedreich Ataxia (FRDA), an inherited neurodegenerative disorder, aimed at exploring novel disease biomarkers. Serum UA was measured in 19 FRDA patients and compared to 26 healthy controls (CTL). Multivariate analysis was conducted to eliminate main confounding factors (age, gender and BMI). Diagnostic accuracy was tested with ROC curve analysis and cut-off point calculation. Clinical predictive value was quantified by means Spearman's correlation with SARA score and other clinical parameters. Serum UA levels resulted significantly higher in FRDA than CTL (p = .016), independently from age, gender and BMI. At the cut-off value of 4.45 mg/dl, serum UA discriminates FRDA from CTL with >70% of sensitivity and >60% of specificity. No correlations emerged with clinical data. Contrarily to other neurodegenerative diseases, in FRDA, we observed an independent increase of serum UA content. Taking in account previous experimental findings, we hypothesize that such a finding may result from biochemical impairment induced by the genetic defect, acting as a sort of compensatory antioxidant defense although proper dedicated studies are mandatory. This preliminary report focuses UA as a potential biomarker for FRDA and encourages further studies on novel therapeutic strategies.

AB - Serum uric acid (UA) is a circulating antioxidant whose levels are typically lower in patients with idiopathic neurodegenerative diseases than healthy controls, reflecting a higher oxidative stress. Here we provided the first assessment of serum UA in Friedreich Ataxia (FRDA), an inherited neurodegenerative disorder, aimed at exploring novel disease biomarkers. Serum UA was measured in 19 FRDA patients and compared to 26 healthy controls (CTL). Multivariate analysis was conducted to eliminate main confounding factors (age, gender and BMI). Diagnostic accuracy was tested with ROC curve analysis and cut-off point calculation. Clinical predictive value was quantified by means Spearman's correlation with SARA score and other clinical parameters. Serum UA levels resulted significantly higher in FRDA than CTL (p = .016), independently from age, gender and BMI. At the cut-off value of 4.45 mg/dl, serum UA discriminates FRDA from CTL with >70% of sensitivity and >60% of specificity. No correlations emerged with clinical data. Contrarily to other neurodegenerative diseases, in FRDA, we observed an independent increase of serum UA content. Taking in account previous experimental findings, we hypothesize that such a finding may result from biochemical impairment induced by the genetic defect, acting as a sort of compensatory antioxidant defense although proper dedicated studies are mandatory. This preliminary report focuses UA as a potential biomarker for FRDA and encourages further studies on novel therapeutic strategies.

KW - Adolescent

KW - Adult

KW - Biomarkers

KW - Child

KW - Databases, Factual

KW - Female

KW - Friedreich Ataxia/blood

KW - Humans

KW - Male

KW - Retrospective Studies

KW - Uric Acid/blood

U2 - 10.1016/j.clinbiochem.2018.01.022

DO - 10.1016/j.clinbiochem.2018.01.022

M3 - Article

C2 - 29409831

VL - 54

SP - 139

EP - 141

JO - Clinical Biochemistry

JF - Clinical Biochemistry

SN - 0009-9120

ER -