Peripheral markers of autophagy in polyglutamine diseases

被引：0
作者：
Giorgia Puorro
Angela Marsili
Francesca Sapone
Chiara Pane
Anna De Rosa
Silvio Peluso
Giuseppe De Michele
Alessandro Filla
Francesco Saccà
机构：
[1] University Federico II,Department of Neurosciences, Odontostomatological and Reproductive Sciences
来源：
Neurological Sciences | 2018年 / 39卷
关键词：
SCA2; Huntington’s disease; Spinocerebellar ataxia type 2; Autophagy; MAP1LC3B; SQSTM1; WDFY3;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Polyglutamine disorders are neurodegenerative diseases that share a CAG repeat expansion in the coding region, resulting in aggregated proteins that can be only degraded through aggrephagy. We measured the expression of autophagy genes in peripheral blood mononuclear cells of 20 patients with Huntington’s disease (HD), 20 with spinocerebellar ataxia type 2 (SCA2), and 20 healthy individuals. HD patients showed increased expression of MAP1LC3B (+ 43%; p = 0.048), SQSTM1 (+ 49%; p = 0.002), and WDFY3 (+ 89%; p < 0.001). SCA2 patients had increased expression of WDFY3 (+ 69%; p < 0.001). We show that peripheral markers of autophagy are elevated in polyQ diseases, and this is particularly evident in HD.
引用
收藏
页码：149 / 152
页数：3
相关论文
共 39 条
[1]  
La Spada AR(2010)Repeat expansion disease: progress and puzzles in disease pathogenesis Nat Rev Genet 11 247-258
[2]  
Taylor JP(2003)Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death Hum Mol Genet 12 1485-1496
[3]  
Huynh DP(2014)Huntingtin is required for ER-to-Golgi transport and for secretory vesicle fusion at the plasma membrane Dis Model Mech 7 1335-1340
[4]  
Yang HT(2016)Role of the mammalian ATG8/LC3 family in autophagy: differential and compensatory roles in the spatiotemporal regulation of autophagy BMB Rep 49 424-430
[5]  
Vakharia H(2015)p62/SQSTM1 functions as a signaling hub and an autophagy adaptor FEBS J 282 4672-4678
[6]  
Nguyen D(2008)SCA functional index: a useful compound performance measure for spinocerebellar ataxia Neurology 71 486-492
[7]  
Pulst SM(1996)Unified Huntington’s disease rating scale: reliability and-consistency Mov Disord 11 136-142
[8]  
Brandstaetter H(2013)Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene J Neurol 260 1116-1121
[9]  
Kruppa AJ(2000)Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human Nat Genet 26 44-50
[10]  
Buss F(2015)Huntingtin in selective autophagy and Huntington disease: a foe or a friend within? Autophagy 11 858-860
1234