Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

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.

Please use this url to cite or link to this publication:
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
2024-01-29 12:40:51
@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}},
  keywords     = {{Autophagy; Fibroblasts; Gaucher disease; GBA mutations; Lysosome; Parkinson's disease}},
  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}},
}