Serum Levels of Coenzyme Q10 in Patients with Multiple System Atrophy

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.

Frequency of GBA Variants in Autopsy‐proven Multiple System Atrophy

“…Dysfunction of glucocerebrosidase, and probably of the autophagosomal pathway, may represent 1 "hit" in what is likely a pathway that requires multiple "hits" for the development of MSA. Other mechanisms that have been implicated in the development of MSA include mitochondrial dysfunction, [25][26][27][28] toxicity of fibrilized a-synuclein, 29 oxidative stress, 30 neuroinflammation, 31,32 and even prion-like propagation of MSA. 33 Although the current study makes an argument for the involvement of the pathways for clearance of a-synuclein in the development of MSA, it also makes clear that other mechanisms also need further investigation.…”

Mitochondrial dysfunction and altered ribostasis in hippocampal neurons with cytoplasmic inclusions of multiple system atrophy

“…As in our study, there are several reports that abnormal phosphorylated tau is aggregated in phosphorylated synuclein-positive cells. 38 We also disclosed that phosphorylated SNCA-positive neurons often overexpressed TFAM and COX4. 33 We disclosed by immunofluorescence that phosphorylated SNCA-positive neurons in the hippocampus strongly co-expressed 8-OHdG, a marker for oxidative stress.…”

Coenzyme Q10 as a Peripheral Biomarker for Multiple System Atrophy

“…12 In addition, patients with the cerebellar and parkinsonism subtypes of MSA had similarly decreased plasma levels of CoQ10. Consistent with these observations, Kasai et al 13 found a decreased ratio of serum CoQ10 to cholesterol in patients with MSA.…”