Abstract
The COQ2 gene encodes an essential enzyme for biogenesis, coenzyme Q10 (CoQ10). Recessive mutations in this gene have recently been identified in families with multiple system atrophy (MSA). Moreover, specific heterozygous variants in the COQ2 gene have also been reported to confer susceptibility to sporadic MSA in Japanese cohorts. These findings have suggested the potential usefulness of CoQ10 as a blood-based biomarker for diagnosing MSA. This study measured serum levels of CoQ10 in 18 patients with MSA, 20 patients with Parkinson’s disease and 18 control participants. Although differences in total CoQ10 (i.e., total levels of serum CoQ10 and its reduced form) among the three groups were not significant, total CoQ10 level corrected by serum cholesterol was significantly lower in the MSA group than in the Control group. Our findings suggest that serum CoQ10 can be used as a biomarker in the diagnosis of MSA and to provide supportive evidence for the hypothesis that decreased levels of CoQ10 in brain tissue lead to an increased risk of MSA.
Highlights
Multiple system atrophy (MSA) is a progressive neurodegenerative disease, clinically characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction
We found no significant difference in age or gender among groups: mean ages were 62.3 years in the MSA group, 63.9 years in the Parkinson’s disease (PD) group, and 61.6 years in the Control group
The present study showed decreased total coenzyme Q10 (CoQ10)/total cholesterol levels (T-Cho) ratios in MSA compared with controls, differences in total CoQ10 levels between groups were not significant
Summary
Multiple system atrophy (MSA) is a progressive neurodegenerative disease, clinically characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. The distribution of pathologies classically encompass three functional systems in the central nervous system (CNS): the striatonigral system; the olivopontocerebellar system; and autonomic nuclei of the brainstem and spinal cord in which cytoplasmic aggregates of alpha-synuclein are primarily observed in oligodendroglia [1,2]. The pathogenic mechanisms underlying this disease remain unclear, making it difficult to develop effective therapies and diagnostic biomarkers. Mutations in COQ2 have recently been found in autosomal-recessive MSA families from Japan [3]. Screening for COQ2 polymorphisms in sporadic MSA cases has revealed variants conferring an increased disease risk for MSA in Japanese cohorts [3]. CoQ10, or PLOS ONE | DOI:10.1371/journal.pone.0147574 January 26, 2016
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