Altered Plasma Acylcarnitines and Amino Acids Profile in Spinocerebellar Ataxia Type 7.

Biomolecules
Rafael Nambo-VenegasJ J Magaña

Abstract

Spinocerebellar ataxia type 7 (SCA7), a neurodegenerative disease characterized by cerebellar ataxia and retinal degeneration, is caused by an abnormal CAG repeat expansion in the ATXN7 gene coding region. The onset and severity of SCA7 are highly variable between patients, thus identification of sensitive biomarkers that accurately diagnose the disease and monitoring its progression are needed. With the aim of identified SCA7-specific metabolites with clinical relevance, we report for the first time, to the best of our knowledge, a metabolomics profiling of circulating acylcarnitines and amino acids in SCA7 patients. We identified 21 metabolites with altered levels in SCA7 patients and determined two different sets of metabolites with diagnostic power. The first signature of metabolites (Valine, Leucine, and Tyrosine) has the ability to discriminate between SCA7 patients and healthy controls, while the second one (Methionine, 3-hydroxytetradecanoyl-carnitine, and 3-hydroxyoctadecanoyl-carnitine) possess the capability to differentiate between early-onset and adult-onset patients, as shown by the multivariate model and ROC analyses. Furthermore, enrichment analyses of metabolic pathways suggest alterations in mitochondrial func...Continue Reading

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Citations

Apr 10, 2021·Journal of the Neurological Sciences·Meng-Ling ChenSheng-Han Kuo
May 22, 2021·Annals of Clinical and Translational Neurology·Sarah M BrookerPuneet Opal

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Methods Mentioned

BETA
metabolomics profiling

Software Mentioned

Stata
R
Metabo Analyst
MSEA
GraphPad
DA
Metabolite Set Enrichment Analysis ( MSEA )
globaltest
Random
Prism

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