COQ2 variants in Parkinson’s disease and multiple system atrophy

  • Michitaka Mikasa
  • Kazuaki Kanai
  • Yuanzhe Li
  • Hiroyo Yoshino
  • Kaoru Mogushi
  • Arisa Hayashida
  • Aya Ikeda
  • Sumihiro Kawajiri
  • Yasuyuki Okuma
  • Kenichi Kashihara
  • Tatsuya Sato
  • Hiroshi Kondo
  • Manabu Funayama
  • Kenya Nishioka
  • Nobutaka Hattori
Neurology and Preclinical Neurological Studies - Original Article

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.

Keywords

Genetics COQ2 familial Parkinson’s disease multiple system atrophy 

Abbreviations

COQ2

Coenzyme Q2

COQ10

Coenzyme Q10

PD

Parkinson’s disease

MSA

Multiple system atrophy

MRI

Magnetic resonance imaging

Notes

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.

Compliance with ethical standards

Conflict of interest

The authors report no conflicts of interest relevant to the manuscript.

Supplementary material

702_2018_1885_MOESM1_ESM.docx (24 kb)
Supplementary material 1 (DOCX 23 kb)

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Copyright information

© Springer-Verlag GmbH Austria, part of Springer Nature 2018

Authors and Affiliations

  • Michitaka Mikasa
    • 1
  • Kazuaki Kanai
    • 1
  • Yuanzhe Li
    • 1
  • Hiroyo Yoshino
    • 2
  • Kaoru Mogushi
    • 3
  • Arisa Hayashida
    • 1
  • Aya Ikeda
    • 1
  • Sumihiro Kawajiri
    • 4
  • Yasuyuki Okuma
    • 4
  • Kenichi Kashihara
    • 5
  • Tatsuya Sato
    • 6
  • Hiroshi Kondo
    • 6
  • Manabu Funayama
    • 1
    • 2
  • Kenya Nishioka
    • 1
  • Nobutaka Hattori
    • 1
    • 2
  1. 1.Department of NeurologyJuntendo University School of MedicineTokyoJapan
  2. 2.Research Institute for Diseases of Old Age, Graduate School of MedicineJuntendo UniversityTokyoJapan
  3. 3.Intractable Disease Research Center, Graduate School of MedicineJuntendo UniversityTokyoJapan
  4. 4.Department of NeurologyJuntendo University Shizuoka HospitalShizuokaJapan
  5. 5.Department of NeurologyOkayama Kyokuto HospitalOkayamaJapan
  6. 6.Brain Disease Center Agano HospitalNigataJapan

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