Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease

被引：118

作者：

Bras, Jose ^{[5
,6
]}

Singleton, Andrew ^{[5
]}

Cookson, Mark R. ^{[4
]}

Hardy, John ^{[1
,2
,3
]}

机构：

[1] UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

[2] Inst Neurol, Dept Neurodegenerat Dis, London WC1N 3BG, England

[3] Inst Neurol, Reta Lila Weston Inst, London WC1N 3BG, England

[4] NIA, Cell Biol & Gene Express Unit, Bethesda, MD 20892 USA

[5] NIA, Mol Genet Unit, Bethesda, MD 20892 USA

[6] Univ Coimbra, Ctr Neurosci & Cell Biol, P-3000 Coimbra, Portugal

来源：

FEBS JOURNAL | 2008年 / 275卷 / 23期

基金：

美国国家卫生研究院; 英国医学研究理事会;

关键词：

ceramide; gene; glucocerebrosidase; Lewy body; loci; mutation; pathogenesis; pathway; risk factor; susceptibility;

D O I：

10.1111/j.1742-4658.2008.06709.x

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Heterozygous loss-of-function mutations at the glucosecerebrosidase locus have recently been shown to be a potent risk factor for Lewy body disease. Based on this observation, we have re-evaluated the likelihood that the different PARK loci (defined using clinical criteria for disease) may be misleading attempts to find common pathways to pathogenesis. Rather, we suggest, grouping the different loci which lead to different Lewy body disease may be more revealing. Doing this, we suggest that several of the genes involved in disparate Lewy body diseases impinge on ceramide metabolism and we suggest that this may be a common theme for pathogenesis.

引用

页码：5767 / 5773

页数：7

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