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COQ2 variants in Parkinson's disease and multiple system atrophy
Michitaka Mikasa1, Kazuaki Kanai1, Yuanzhe Li1
1Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan.
Journal of Neural Transmission (Vienna, Austria : 1996)
|April 13, 2018
Summary
Rare variants in Coenzyme Q2, polyprenyltransferase (COQ2) may rarely contribute to familial Parkinson's disease (PD) onset. This study investigated COQ2 variants in familial PD and multiple system atrophy (MSA) patients.
Area of Science:
- Neurogenetics
- Molecular Neurology
- Human Genetics
Background:
- Coenzyme Q2, polyprenyltransferase (COQ2) variants are linked to multiple system atrophy (MSA).
- The association between COQ2 variants and familial Parkinson's disease (PD) is not well understood.
Purpose of the Study:
- To investigate the frequency of COQ2 variants in familial PD and MSA.
- To analyze the clinical symptoms associated with COQ2 variants in these patient cohorts.
Main Methods:
- Sanger sequencing of the COQ2 gene in 123 familial PD, 52 sporadic PD, and 39 clinically diagnosed MSA patients.
- Clinical data collection from medical records.
- Comparison of rare non-synonymous variant frequencies with public databases (ExAC, Japanese genetic variation database) using Fisher's exact test.
Main Results:
- Two probands with rare COQ2 variants (p.P157S and p.H15N/p.G331S) were identified in familial PD cases.
- Eight non-synonymous COQ2 variants were detected overall; p.P157S, p.L261Qfs*4, and p.G331S were very rare.
- The variant p.G21S showed a significant association with familial PD.
Conclusions:
- COQ2 variants are rarely associated with the onset of familial Parkinson's disease.
- Findings enhance the understanding of COQ2's role in neurodegenerative disorders.