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COQ2 variants in Parkinson’s disease and multiple system atrophy

  • Neurology and Preclinical Neurological Studies - Original Article
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Abstract

Coenzyme Q2, polyprenyltransferase (COQ2) variants have been reported to be associated with multiple system atrophy (MSA). However, the relationship between COQ2 variants and familial Parkinson’s disease (PD) remains unclear. We investigated the frequency of COQ2 variants and clinical symptoms among familial PD and MSA. We screened COQ2 using the Sanger method in 123 patients with familial PD, 52 patients with sporadic PD, and 39 patients with clinically diagnosed MSA. Clinical information was collected from medical records for the patients with COQ2 variants. Allele frequencies of detected rare non-synonymous variants were compared by public database of the Exome Aggregation Consortium (ExAC) and Japanese genetic variation database, using Fisher’s exact test. We detected two probands with rare variants in COQ2, the p.P157S from Family A, whose patient was clinically diagnosed as having juvenile PD, and the p.H15 N/p.G331S from Family B, whose patients shared common symptoms of PD. Furthermore, in an association study comparing these familial PD and MSA cases with a public variant database, eight non synonymous variants were detected in COQ2. Three of these were very rare variants, namely, p.P157S, p.L261Qfs*4, and p.G331S, and one variant, p.G21S, was found to show a significant association with familial PD. COQ2 variants rarely may associate with the disease onset of familial PD. Our findings contribute to an understanding of COQ2 variants in neurodegenerative disorders.

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Abbreviations

COQ2 :

Coenzyme Q2

COQ10 :

Coenzyme Q10

PD:

Parkinson’s disease

MSA:

Multiple system atrophy

MRI:

Magnetic resonance imaging

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Acknowledgements

KK is funded by Grants-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology of Japan (23591269, 26461319). This work was supported by JSPS KAKENHI Grant numbers, 16K09678 (to KN), 16K09700 (to YL), 16K09676 (to MF), and 15H04842 (to NH). We are very grateful for these Grants: AMED-CREST (Japanese Association of Medical Research and Development) (N.H.), Practical Research Project for Rare/Intractable Diseases from AMED; 15ek0109029s0202 to NH.

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Authors and Affiliations

  1. Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan

    Michitaka Mikasa, Kazuaki Kanai, Yuanzhe Li, Arisa Hayashida, Aya Ikeda, Manabu Funayama, Kenya Nishioka & Nobutaka Hattori

  2. Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan

    Hiroyo Yoshino, Manabu Funayama & Nobutaka Hattori

  3. Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan

    Kaoru Mogushi

  4. Department of Neurology, Juntendo University Shizuoka Hospital, 1129 Nagaoka, Izunokuni-shi, Shizuoka, 410-2295, Japan

    Sumihiro Kawajiri & Yasuyuki Okuma

  5. Department of Neurology, Okayama Kyokuto Hospital, 354-19 Kurata, Naka-ku, Okayama-shi, Okayama, 703-8265, Japan

    Kenichi Kashihara

  6. Brain Disease Center Agano Hospital, 6317-15 Yasuda, Agano-shi, Nigata, 959-2221, Japan

    Tatsuya Sato & Hiroshi Kondo

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  1. Michitaka Mikasa
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  2. Kazuaki Kanai
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  3. Yuanzhe Li
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Correspondence to Kenya Nishioka or Nobutaka Hattori.

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Mikasa, M., Kanai, K., Li, Y. et al. COQ2 variants in Parkinson’s disease and multiple system atrophy. J Neural Transm 125, 937–944 (2018). https://doi.org/10.1007/s00702-018-1885-1

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