Mutation scanning of the COQ2 gene in ethnic Chinese patients with multiple-system atrophy

Chen, Yong Ping; Zhao, Bi; Cao, Bei; Song, Wei; Guo, Xiaoyan; Wei, Qianqian; Yang, Yuan; Li, Yuan; Shang, Huifang

doi:10.1016/j.neurobiolaging.2014.09.010

Cited by 40 publications

(34 citation statements)

References 21 publications

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“…The p.V393A variant associated with MSA in the Japanese population was identified in 5/116 MSA cases and 2/192 controls in our study. The frequency of p.V393A allele in our MSA cases (2.2%) is quite similar to that of a previous Chinese study (2.1% of MSA cases) . This implies that the MAF of p.V393A may be approximately 2% in Chinese MSA cases.…”

Section: Discussionsupporting

confidence: 88%

“…In the current study, we screened COQ2 variants in 116 sporadic MSA‐C cases, identifying 2 missense mutations (p.R173H and p.L402F) and a synonymous mutation (p.A32A). The p.R173H was recently documented in two cases (one MSA‐P and one MSA‐C) in a cohort of southwest Chinese patients with MSA , suggesting that it is common in the Chinese population and may play a distinct role in Chinese MSA patients. The p.L402F and p.A32A variants were novel and not reported previously.…”

Section: Discussionmentioning

confidence: 92%

“…This implies that the MAF of p.V393A may be approximately 2% in Chinese MSA cases. As shown in Table S3, the association of p.V393A variant with MSA was not significant in our cohort and the study from southwest China [17]. In the Korean study, the p.V393A was not associated with MSA either (MAF, 2.7% of cases, 2.6% of controls) [13].…”

Section: Discussionmentioning

confidence: 99%

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Mutation Analysis of COQ2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy

Wen

Wang

et al. 2015

CNS Neurosci Ther

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Section: Discussionsupporting

confidence: 88%

Section: Discussionmentioning

confidence: 92%

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Mutation Analysis of COQ2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy

Wen

Wang

et al. 2015

CNS Neurosci Ther

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“…Using whole genome sequencing, a recent study conducted in a Japanese cohort of MSA patients identified heterozygous mutations in the COQ2 gene to cause MSA [101]. However, two follow-up studies in China and in the USA did not detect any heterozygous COQ2 mutations [102, 103]. Nevertheless, common and rare variants of the COQ2 gene were associated with an increased risk for the development of MSA [101–103].…”

Section: Oligodendroglial and Myelin Dysfunction In Msamentioning

confidence: 99%

Oligodendroglia and Myelin in Neurodegenerative Diseases: More Than Just Bystanders?

2015

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Oligodendrocytes, the myelinating cells of the central nervous system, mediate rapid action potential conduction and provide trophic support for axonal as well as neuronal maintenance. Their progenitor cell population is widely distributed in the adult brain and represents a permanent cellular reservoir for oligodendrocyte replacement and myelin plasticity. The recognition of oligodendrocytes, their progeny, and myelin as contributing factors for the pathogenesis and the progression of neurodegenerative disease has recently evolved shaping our understanding of these disorders. In the present review, we aim to highlight studies on oligodendrocytes and their progenitors in neurodegenerative diseases. We dissect oligodendroglial biology and illustrate evolutionary aspects in regard to their importance for neuronal functionality and maintenance of neuronal circuitries. After covering recent studies on oligodendroglia in different neurodegenerative diseases mainly in view of their function as myelinating cells, we focus on the alpha-synucleinopathy multiple system atrophy, a prototypical disorder with a well-defined oligodendroglial pathology.

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“…An association between sporadic MSA and CoQ2 variants was found in Japanese, Taiwanese and Chinese populations, but these results were not replicated in other cohorts. [26][27][28][29][30][31] Further studies have revealed reduction in CoQ10 levels in the cerebellum and serum of patients with MSA. 32,33 These findings may be particularly important in implicating CoQ10 supplementation as a therapeutic option in MSA, though this has not yet been systematically studied.…”

Section: Coenzyme Q2 Genementioning

confidence: 99%

Understanding Multiple System Atrophy—Could Genetics Lead the Way?

Sklerov¹,

Waters²

2016

US Neurology

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Multiple system atrophy (MSA) is a progressive, adult-onset, neurodegenerative disorder characterized by parkinsonism, cerebellar ataxia, autonomic failure, and corticospinal tract dysfunction. It is considered a rare disease, similar in frequency to the more well-known neurodegenerative disease amyotrophic lateral sclerosis or Lou Gehrig’s disease. Though MSA has not traditionally been considered a genetic disease, new evidence is emerging supporting some genetic predisposition in many patients. In this short review, we will discuss advances in the knowledge of genetics in MSA and how this has furthered our understanding of the pathophysiology of the disease. There is still much unknown about this disease, but some of the recent advances made in MSA genetics may give important clues to understanding the pathogenesis and treatment of this disease.

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Mutation scanning of the COQ2 gene in ethnic Chinese patients with multiple-system atrophy

Cited by 40 publications

References 21 publications

Mutation Analysis of COQ2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy

Mutation Analysis of COQ2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy

Oligodendroglia and Myelin in Neurodegenerative Diseases: More Than Just Bystanders?

Understanding Multiple System Atrophy—Could Genetics Lead the Way?

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