Lack of evidence for an association between the V393A variant of COQ2 and amyotrophic lateral sclerosis in a Han Chinese population

Yang, Xinglong; Xi, Jing; An, Ran; Yu, Lihua; Lin, Zone‐Ching; Zhou, Huayong; Xu, Yanming

doi:10.1007/s10072-015-2083-7

Cited by 4 publications

(2 citation statements)

References 21 publications

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“…However, several other groups did not find the association between MSA and COQ2 variants. This may be due to differences in ethnic backgrounds of the study populations because MSA-C is the predominant type in East Asia but not in other geographical areas (4)(5)(6)(7)(8)(9)(10)(11). Whether CoQ 10 deficiency is present in MSA brains, independent of the presence of COQ2 mutations, and whether it plays a role in the pathogenesis of the disease, has not been investigated.…”

Section: Introductionmentioning

confidence: 99%

Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum

Barca

Kleiner

Tang

et al. 2016

J Neuropathol Exp Neurol

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In familial and sporadic multiple system atrophy (MSA) patients, deficiency of coenzyme Q10 (CoQ10) has been associated with mutations in COQ2, which encodes the second enzyme in the CoQ10 biosynthetic pathway. Cerebellar ataxia is the most common presentation of CoQ10 deficiency, suggesting that the cerebellum might be selectively vulnerable to low levels of CoQ10 To investigate whether CoQ10 deficiency represents a common feature in the brains of MSA patients independent of the presence of COQ2 mutations, we studied CoQ10 levels in postmortem brains of 12 MSA, 9 Parkinson disease (PD), 9 essential tremor (ET) patients, and 12 controls. We also assessed mitochondrial respiratory chain enzyme activities, oxidative stress, mitochondrial mass, and levels of enzymes involved in CoQ biosynthesis. Our studies revealed CoQ10 deficiency in MSA cerebellum, which was associated with impaired CoQ biosynthesis and increased oxidative stress in the absence of COQ2 mutations. The levels of CoQ10 in the cerebella of ET and PD patients were comparable or higher than in controls. These findings suggest that CoQ10 deficiency may contribute to the pathogenesis of MSA. Because no disease modifying therapies are currently available, increasing CoQ10 levels by supplementation or upregulation of its biosynthesis may represent a novel treatment strategy for MSA patients.

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Section: Introductionmentioning

confidence: 99%

Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum

Barca

Kleiner

Tang

et al. 2016

J Neuropathol Exp Neurol

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“…Functionally impaired variants of COQ2 have also been associated with increased risk of MSA in Japanese population [ 4 ]. While some reports indicate that COQ2 mutation was not associated with Parkinson's disease and Amyotrophic Lateral Sclerosis (ALS) ( Table 4 ) [ 4 – 8 ], the association between COQ2 mutation and dementia and ET is not clear. Given the fact that these disorders share some common pathological changes such as the Lewy body formation and synucleinopathy, we hypothesize that COQ2 mutation may also be involved in the pathogenesis of these diseases.…”

Section: Discussionmentioning

confidence: 99%

Association Analysis of COQ2 Variant in Dementia and Essential Tremor

Chao

et al. 2015

Parkinson's Disease

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Objective. COQ2 mutations have been reported in Japanese multiple system atrophy (MSA) patients. We examined the role of COQ2 in patients with dementia and essential tremor (ET), two common neurodegenerative conditions. Materials & Methods. A total of 2064 subjects, including 560 patients with dementia, 466 patients with ET, and 1038 healthy controls, were included. Genotyping for the COQ2 V393A (T>C) was carried out. Odds ratio (OR) adjusted by age and gender, together with 95% confidence interval (CI), was reported by means of logistic regression. Results. The frequency of the polymorphic variant V393A heterozygous (T/C) was 2.7% in dementia, 1.1% in ET, and 2.5% in controls (OR = 0.70, 95% confidence interval is 0.29–1.72 for dementia, and OR = 0.47, 95% confidence interval is 0.17–1.31, p = 0.1217 for ET). There was no significant association between V393A variant with dementia and ET. Conclusion. There was no significant association between V393A variant with dementia and ET. COQ2 gene is unlikely to play a significant role in patients with dementia or ET in our population.

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Absence of association of the Ala58Val (rs17571) CTSD gene variant with Parkinson’s disease or amyotrophic lateral sclerosis in a Han Chinese population

Yang

Zhao

et al. 2018

Neuroscience Letters

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Lack of evidence for an association between the V393A variant of COQ2 and amyotrophic lateral sclerosis in a Han Chinese population

Cited by 4 publications

References 21 publications

Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum

Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum

Association Analysis of COQ2 Variant in Dementia and Essential Tremor

Absence of association of the Ala58Val (rs17571) CTSD gene variant with Parkinson’s disease or amyotrophic lateral sclerosis in a Han Chinese population

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