肌萎缩侧索硬化症

中文名称

肌萎缩侧索硬化症

通路描述

肌萎缩侧索硬化症（ALS）是一种以脑和脊髓中运动神经元进行性退变为特征的神经退行性疾病。在 90% 的患者中，ALS 是特发的，没有明确的遗传联系。另一方面，其余 10% 的案例显示家族遗传，SOD1、TDP43(TARDBP)、FUS 或 C9orf72 基因中的突变是最常见的原因。尽管存在这种差异，家族性 ALS 和特发性 ALS 在病理特征上具有相似性。ALS 中导致运动神经元退变的潜在疾病机制包括：蛋白质稳态受损、异常 RNA 加工、线粒体功能障碍和氧化应激、小胶质细胞激活和轴突功能障碍。

英文描述

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by a progressive degeneration of motor neurons in the brain and spinal cord. In 90% of patients, ALS is sporadic, with no clear genetic linkage. On the other hand, the remaining 10% of cases show familial inheritance, with mutations in SOD1, TDP43(TARDBP), FUS, or C9orf72 genes being the most frequent causes. In spite of such difference, familial ALS and sporadic ALS have similarities in their pathological features. Proposed disease mechanisms contributing to motor neuron degeneration in ALS are: impaired proteostasis, aberrant RNA processing, mitochondrial disfunction and oxidative stress, microglia activation, and axonal dysfunction.

所含基因

367 个基因

ACTB ACTG1 ACTR10 ACTR1A ACTR1B ADRM1 ALS2 ALYREF AMBRA1 ANG ANXA11 ANXA7 APAF1 ATF4 ATF6 ATG101 ATG13 ATG14 ATG2A ATG2B ATP5F1A ATP5F1B ATP5F1C ATP5F1D ATP5F1E ATP5MC1 ATP5MC2 ATP5MC3 ATP5PB ATP5PD ATP5PF ATP5PO ATP6 ATP8 ATXN2 ATXN2L BAD BAX BCL2 BCL2L1 BECN1 BECN2 BID CASP1 CASP12 CASP3 CASP9 CAT CCS CHCHD10 CHMP2B COX1 COX2 COX3 COX4I1 COX4I2 COX5A COX5B COX6A1 COX6A2 COX6B1 COX6B2 COX6C COX7A1 COX7A2 COX7A2L COX7B COX7B2 COX7C COX8A COX8C COXFA4 COXFA4L2 CYC1 CYCS CYTB DAXX DCTN1 DCTN2 DCTN3 DCTN4 DCTN5 DCTN6 DDIT3 DERL1 DNAH1 DNAH10 DNAH11 DNAH12 DNAH14 DNAH17 DNAH2 DNAH3 DNAH5 DNAH6 DNAH7 DNAH8 DNAH9 DNAI1 DNAI2 DNAL1 DNAL4 DNALI1 EIF2AK3 EIF2S1 ERBB4 ERN1 FIG4 FUS GLE1 GPX1 GPX2 GPX3 GPX5 GPX6 GPX7 GPX8 GRIA1 GRIA2 GRIN1 GRIN2A GRIN2B GRIN2C GRIN2D HAP1 HDAC6 HNRNPA1 HNRNPA1L2 HNRNPA1L3 HNRNPA2B1 HNRNPA3 HSPA5 ITPR3 KIF5A KIF5B KIF5C KLC1 KLC2 KLC3 KLC4 LOC107984365 MAP1LC3A MAP1LC3B MAP1LC3B2 MAP1LC3BP1 MAP1LC3C MAP2K3 MAP2K6 MAP3K5 MAPK11 MAPK12 MAPK13 MAPK14 MATR3 MCU MTOR NCBP1 ND1 ND2 ND3 ND4 ND4L ND5 ND6 NDC1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA3 NDUFA5 NDUFA6 NDUFA7 NDUFA8 NDUFA9 NDUFAB1 NDUFB1 NDUFB10 NDUFB11 NDUFB2 NDUFB3 NDUFB4 NDUFB5 NDUFB6 NDUFB7 NDUFB8 NDUFB9 NDUFC1 NDUFC2 NDUFC2-KCTD14 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS5 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NDUFV3 NEFH NEFL NEFM NOS1 NOS2 NRBF2 NRG1 NRG2 NRG3 NRG4 NUP107 NUP133 NUP153 NUP155 NUP160 NUP188 NUP205 NUP210 NUP210L NUP214 NUP35 NUP37 NUP43 NUP50 NUP54 NUP58 NUP62 NUP85 NUP88 NUP93 NUP98 NXF1 NXF2 NXF2B NXF3 NXT1 NXT2 OPTN PFN1 PFN2 PFN3 PFN4 PIK3C3 PIK3R4 PINK1 POM121 POM121C POM121L2 PPP3CA PPP3CB PPP3CC PPP3R1 PPP3R2 PRKN PRPH PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMA8 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD4 PSMD6 PSMD7 PSMD8 PSMD9 RAB1A RAB39B RAB5A RAB8A RAC1 RAE1 RANBP2 RB1CC1 SDHA SDHB SDHC SDHD SEC13 SEH1L SEM1 SETX SIGMAR1 SLC1A2 SMCR8 SOD1 SPG11 SQSTM1 SRSF3 SRSF7 TANK TARDBP TBK1 TNF TNFRSF1A TNFRSF1B TOMM40 TOMM40L TP53 TPR TRAF2 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA8 TUBAL3 TUBB TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B UBQLN1 UBQLN2 UBQLN3 UBQLN4 ULK1 ULK2 UQCR10 UQCR11 UQCRB UQCRC1 UQCRC2 UQCRFS1 UQCRH UQCRHL UQCRQ VAPB VCP VDAC1 WDR41 WIPI1 WIPI2 XBP1