Movement Disorders (revue)

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Plasma oligomeric alpha-synuclein is associated with glucocerebrosidase activity in Gaucher disease.

Identifieur interne : 000173 ( PubMed/Corpus ); précédent : 000172; suivant : 000174

Plasma oligomeric alpha-synuclein is associated with glucocerebrosidase activity in Gaucher disease.

Auteurs : Evgenii Nuzhnyi ; Anton Emelyanov ; Tatyana Boukina ; Tatiana Usenko ; Andrey Yakimovskii ; Ekaterina Zakharova ; Sofya Pchelina

Source :

RBID : pubmed:25962734

Abstract

The link between Parkinson's disease (PD) and Gaucher disease (GD), the most common lysosomal storage disease associated with loss of glucocerebrosidase (GBA) activity, can be explained by abnormal accumulation of oligomeric alpha-synuclein (α-Syn) species resulting from mutations in the GBA gene. However, in GD, the relationship between GBA activity and α-Syn accumulation in biological fluids has not been investigated.

DOI: 10.1002/mds.26200
PubMed: 25962734

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pubmed:25962734

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<nlm:affiliation>First Pavlov's State Medical University of Saint-Petersburg, St. Petersburg, Russia.</nlm:affiliation>
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<name sortKey="Emelyanov, Anton" sort="Emelyanov, Anton" uniqKey="Emelyanov A" first="Anton" last="Emelyanov">Anton Emelyanov</name>
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<nlm:affiliation>Medical-genetics Scientific Center, Moscow, Russia.</nlm:affiliation>
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<name sortKey="Pchelina, Sofya" sort="Pchelina, Sofya" uniqKey="Pchelina S" first="Sofya" last="Pchelina">Sofya Pchelina</name>
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<title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<div type="abstract" xml:lang="en">The link between Parkinson's disease (PD) and Gaucher disease (GD), the most common lysosomal storage disease associated with loss of glucocerebrosidase (GBA) activity, can be explained by abnormal accumulation of oligomeric alpha-synuclein (α-Syn) species resulting from mutations in the GBA gene. However, in GD, the relationship between GBA activity and α-Syn accumulation in biological fluids has not been investigated.</div>
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<Day>23</Day>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>Plasma oligomeric alpha-synuclein is associated with glucocerebrosidase activity in Gaucher disease.</ArticleTitle>
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<AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">The link between Parkinson's disease (PD) and Gaucher disease (GD), the most common lysosomal storage disease associated with loss of glucocerebrosidase (GBA) activity, can be explained by abnormal accumulation of oligomeric alpha-synuclein (α-Syn) species resulting from mutations in the GBA gene. However, in GD, the relationship between GBA activity and α-Syn accumulation in biological fluids has not been investigated.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">We analyzed plasma oligomeric α-Syn levels, leucocyte GBA activity, and plasma chitotriosidase activity in 21 patients with GD.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">Negative correlation between plasma oligomeric α-Syn levels, and leucocyte GBA activity was observed in patients with GD (R(2)  = 0.487; P < 0.001).</AbstractText>
<AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">The decrease in GBA activity may influence α-Syn oligomerization, explaining the high risk of PD development in GD patients. © 2015 International Parkinson and Movement Disorder Society.</AbstractText>
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