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Dermal fibroblasts from patients with Parkinson's disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations

Collins, Lucy M. ; Drouin-Ouellet, Janelle LU ; Kuan, Wei Li ; Cox, Timothy and Barker, Roger A. LU (2018) In F1000Research 6.
Abstract

Background: Recently, the development of Parkinson's disease (PD) has been linked to a number of genetic risk factors, of which the most common is glucocerebrosidase (GBA) mutations. Methods: We investigated PD and Gaucher Disease (GD) patient derived skin fibroblasts using biochemistry assays. Results: PD patient derived skin fibroblasts have normal glucocerebrosidase (GCase) activity, whilst patients with PD and GBA mutations have a selective deficit in GCase enzyme activity and impaired autophagic flux. Conclusions: This data suggests that only PD patients with a GBA mutation have altered GCase activity and autophagy, which may explain their more rapid clinical progression.

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author
; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Autophagy, Fibroblasts, Gaucher disease, GBA mutations, Lysosome, Parkinson's disease
in
F1000Research
volume
6
article number
1751
publisher
F1000 Research Ltd.
external identifiers
  • pmid:29527290
  • scopus:85042530673
ISSN
2046-1402
DOI
10.12688/f1000research.12090.2
language
English
LU publication?
yes
id
31b96cd3-8445-4d52-b6d0-17e815176595
date added to LUP
2018-03-09 08:55:12
date last changed
2021-10-06 04:35:38
@article{31b96cd3-8445-4d52-b6d0-17e815176595,
  abstract     = {<p>Background: Recently, the development of Parkinson's disease (PD) has been linked to a number of genetic risk factors, of which the most common is glucocerebrosidase (GBA) mutations. Methods: We investigated PD and Gaucher Disease (GD) patient derived skin fibroblasts using biochemistry assays. Results: PD patient derived skin fibroblasts have normal glucocerebrosidase (GCase) activity, whilst patients with PD and GBA mutations have a selective deficit in GCase enzyme activity and impaired autophagic flux. Conclusions: This data suggests that only PD patients with a GBA mutation have altered GCase activity and autophagy, which may explain their more rapid clinical progression.</p>},
  author       = {Collins, Lucy M. and Drouin-Ouellet, Janelle and Kuan, Wei Li and Cox, Timothy and Barker, Roger A.},
  issn         = {2046-1402},
  language     = {eng},
  publisher    = {F1000 Research Ltd.},
  series       = {F1000Research},
  title        = {Dermal fibroblasts from patients with Parkinson's disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations},
  url          = {http://dx.doi.org/10.12688/f1000research.12090.2},
  doi          = {10.12688/f1000research.12090.2},
  volume       = {6},
  year         = {2018},
}