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- 2015.1
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Lysosomal dysfunction is a common pathological feature of neurodegenerative diseases. GTP-binding protein type A1 (GBA1)encodes β-glucocerebrosidase 1 (GCase 1), a lysosomal hydrolase. Homozygous mutations in GBA1 cause Gaucher disease, themost common lysosomal storage disease, while heterozygous mutations are strong risk factors for Parkinson’s disease. However, whether loss of GCase 1 activity is sufficient for lysosomal dysfunction has not been clearly determined. Here, we generated human neuroblastoma cell lines with nonsense mutations in the GBA1 gene using zinc-finger nucleases. Depending on the site of mutation, GCase 1 activity was lost or maintained. The cell line with GCase 1 deficiency showed indications of lysosomal dysfunction, such as accumulation of lysosomal substrates, reduced dextran degradation and accumulation of enlarged vacuolar structures. In contrast, the cell line with C-terminal truncation of GCase 1 but with intact GCase 1 activity showed normal lysosomal function. When α-synuclein was overexpressed, accumulation and secretion of insoluble aggregates increased in cells with GCase 1 deficiency but did not change in mutant cells with normal GCase 1 activity. These results demonstrate that loss of GCase 1 activity is sufficient to cause lysosomal dysfunction and accumulation of α-synuclein aggregates.
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참고문헌 (25)
참고문헌 신청
Atrian S / 2008 / An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions-relevance for Gaucher dise
Bahr BA / 2002 / The neuropathogenic contributions of lysosomal dysfunction / J Neurochem 83 : 481 ~ 489
Brady RO / 1965 / The metabolism of glucocerebrosides. I. purification and properties of a glucocerebroside-cleaving enzyme from spleen tissue / J Biol Chem 240 : 39 ~ 43
Butler D / 2006 / Potential compensatory responses through autophagic/lysosomal pathways in neurodegenerative diseases / Autophagy 2 : 234 ~ 237
Cabrera-Salazar MA / 2010 / Intracerebroventricular delivery of glucocerebrosidase reduces substrates and increases lifespan in a mouse model of neuronopathic Gaucher diseas
Bahr BA / 2002 / The neuropathogenic contributions of lysosomal dysfunction / J Neurochem 83 : 481 ~ 489
Brady RO / 1965 / The metabolism of glucocerebrosides. I. purification and properties of a glucocerebroside-cleaving enzyme from spleen tissue / J Biol Chem 240 : 39 ~ 43
Butler D / 2006 / Potential compensatory responses through autophagic/lysosomal pathways in neurodegenerative diseases / Autophagy 2 : 234 ~ 237
Cabrera-Salazar MA / 2010 / Intracerebroventricular delivery of glucocerebrosidase reduces substrates and increases lifespan in a mouse model of neuronopathic Gaucher diseas
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