No evidence for substrate accumulation in Parkinson brains with GBA mutations.
Mov Disord
; 30(8): 1085-9, 2015 Jul.
Article
em En
| MEDLINE
| ID: mdl-26096906
ABSTRACT
BACKGROUND:
To establish whether Parkinson's disease (PD) brains previously described to have decreased glucocerebrosidase activity exhibit accumulation of the lysosomal enzyme's substrate, glucosylceramide, or other changes in lipid composition.METHODS:
Lipidomic analyses and cholesterol measurements were performed on the putamen (n = 5-7) and cerebellum (n = 7-14) of controls, Parkinson's disease brains with heterozygote GBA1 mutations (PD+GBA), or sporadic PD.RESULTS:
Total glucosylceramide levels were unchanged in both PD+GBA and sporadic PD brains when compared with controls. No changes in glucosylsphingosine (deacetylated glucosylceramide), sphingomyelin, gangliosides (GM2, GM3), or total cholesterol were observed in either putamen or cerebellum.CONCLUSIONS:
This study did not demonstrate glucocerebrosidase substrate accumulation in PD brains with heterozygote GBA1 mutations in areas of the brain with low α-synuclein pathology.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Putamen
/
Bancos de Tecidos
/
Cerebelo
/
Beta-Glucosidase
/
Glucosilceramidase
Limite:
Humans
Idioma:
En
Revista:
Mov Disord
Ano de publicação:
2015
Tipo de documento:
Article