Role of glutathione S-transferases in the spinocerebellar ataxia type 2 clinical phenotype.
Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative and incurable hereditary disorder caused by a CAG repeat expansion mutation on ATXN2 gene. The identification of reliable biochemical markers of disease severity is of paramount significance for the development and assessment of clinical trials. In order to evaluate the potential use of glutathione-S-transferase (GST) activity as a biomarker for SCA2, a case-control study in 38 affected, presymptomatic individuals or healthy controls was conducted. An enlarged sample of 121 affected individuals was set to assess the impact of GST activity on SCA2 clinical expression. There was a significant increase in GST activity in affected individuals relative to controls, although sensibility and specificity were not high. GST activity was not significantly influenced by sex, age, disease duration or CAG repeat size and did not significantly influence disease severity markers. These findings show a disruption of in vivo GST activity in SCA2, suggesting a role for oxidative stress in the neurodegenerative process.
Center for the Research and Rehabilitation of Hereditary Ataxias-CIRAH, Cuba. Electronic address: dennisalmaguer@gmail.com.
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D
Almaguer-Gotay
Center for the Research and Rehabilitation of Hereditary Ataxias-CIRAH, Cuba.
L E
LE
Almaguer-Mederos
Center for the Research and Rehabilitation of Hereditary Ataxias-CIRAH, Cuba.
R
R
Aguilera-Rodríguez
Center for the Research and Rehabilitation of Hereditary Ataxias-CIRAH, Cuba.
A
A
Estupiñán-Rodríguez
Center for the Research and Rehabilitation of Hereditary Ataxias-CIRAH, Cuba.
Y
Y
González-Zaldivar
Center for the Research and Rehabilitation of Hereditary Ataxias-CIRAH, Cuba.
D
D
Cuello-Almarales
Center for the Research and Rehabilitation of Hereditary Ataxias-CIRAH, Cuba.
J M
JM
Laffita-Mesa
Center for the Research and Rehabilitation of Hereditary Ataxias-CIRAH, Cuba.
Y
Y
Vázquez-Mojena
D000293:Adolescent; D000328:Adult; D000368:Aged; D000704:Analysis of Variance; D000067528:Ataxins; D016022:Case-Control Studies; D005260:Female; D005982:Glutathione Transferase / Q000097:blood*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D010641:Phenotype; D012680:Sensitivity and Specificity; D020754:Spinocerebellar Ataxias / Q000201:enzymology* / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics; D055815:Young Adult
D000067528:Ataxins; D009419:Nerve Tissue Proteins; D005982:Glutathione Transferase
Antioxidant enzymes; Glutathione S-transferase; Oxidative stress; Polyglutamine disease; Presymptomatic; Spinocerebellar ataxia type 2