Abstract:
:Gaucher's disease (GD) is the most prevalent lysosomal storage disorder. GD is caused by homozygous mutations of the GBA1 gene, which codes for beta-glucocerebrosidase (GCase). Although GD primarily affects peripheral tissues, the presence of neurological symptoms has been reported in several GD subtypes. GBA1 mutations have recently deserved increased attention upon the demonstration that both homo- and heterozygous GBA1 mutations represent the most important genetic risk factor for the appearance of synucleinopathies like Parkinson's disease (PD) and dementia with Lewy bodies (LBD). Although reduced GCase activity leads to alpha-synuclein aggregation, the mechanisms sustaining a role for GCase in alpha-synuclein homeostasis still remain largely unknown. Furthermore, the role to be played by impairment in the physiological function of endoplasmic reticulum, mitochondria and other subcellular membranous components is currently under investigation. Here we focus on the impact of GCase loss-of-function that impact on the levels of sterylglucosides, molecules that are known to trigger a PD-related synucleinopathy upon administration in rats. Moreover, the concurrence of another gene also coding for an enzyme with GCase activity (GBA2 gene) should also be taken into consideration, bearing in mind that in addition to a hydrolytic function, both GCases also share transglycosylation as a second catalytic activity. Accordingly, sterylglycoside levels should also be considered to further assess their impact on the neurodegenerative process. In this regard-and besides GBA1 genotyping-we suggest that screening for GBA2 mutations should be considered, together with analytical measurements of cholesterol glycosides in body fluids, as biomarkers for both PD risk and disease progression.
journal_name
Front Neuroanatjournal_title
Frontiers in neuroanatomyauthors
Franco R,Sánchez-Arias JA,Navarro G,Lanciego JLdoi
10.3389/fnana.2018.00052subject
Has Abstractpub_date
2018-06-28 00:00:00pages
52issn
1662-5129journal_volume
12pub_type
杂志文章abstract::The last 140 years have seen considerable advances in knowledge of central nervous system tumors. However, the main tumor types had already been described during the early years of the twentieth century. The studies of Dr. Pío del Río Hortega have been ones of the most exhaustive histology and cytology-based studies o...
journal_title:Frontiers in neuroanatomy
pub_type: 杂志文章,评审
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journal_title:Frontiers in neuroanatomy
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journal_title:Frontiers in neuroanatomy
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journal_title:Frontiers in neuroanatomy
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journal_title:Frontiers in neuroanatomy
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journal_title:Frontiers in neuroanatomy
pub_type: 杂志文章,评审
doi:10.3389/fnana.2019.00014
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journal_title:Frontiers in neuroanatomy
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