Loading…
COQ2 variants in Parkinson’s disease and multiple system atrophy
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 amo...
Saved in:
Published in: | Journal of Neural Transmission 2018-06, Vol.125 (6), p.937-944 |
---|---|
Main Authors: | , , , , , , , , , , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Summary: | 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. |
---|---|
ISSN: | 0300-9564 1435-1463 |
DOI: | 10.1007/s00702-018-1885-1 |