Table 1.
SNCA-mutated iPSC-derived neuronal phenotypes.
| Reference | Number of Cohorts | Type of Mutation | Cell Type | Phenotype |
|---|---|---|---|---|
| [48] | 1 PD line vs. 2 control lines | Autosomal dominant Triplication | iPSC-derived neuronal progenitor cells | 1. Elevated α-synuclein levels 2. Decreased neuronal activity 3. Increased autophagy 4. Mitochondrial dysfunction 5. Increased oxidative stress |
| [57] | 1 PD line vs. 1 control line | Autosomal dominant Triplication | iPSC-derived cortical neurons | 1. Elevated α-synuclein levels 2. Endoplasmic Reticulum stress |
| [58] | 1 PD line vs. 2 control lines | Autosomal dominant Triplication | iPSC-derived DA neurons | 1. Elevated α-synuclein levels 2. Impairment in neuronal development 3. Impairment in synaptic transmission 3. Increased autophagy |
| [47] | 1 PD line vs. 1 control line | Autosomal dominant Duplication | iPSC-derived midbrain DA and Cortical projection neurons | 1. Elevated α-synuclein levels 2. Increased α-synuclein aggregation 3. Increased phosphorylated α-synuclein 4. Increased oxidative stress |
| [56] | 1 PD line vs. 1 control line | Autosomal dominant Triplication | iPSC-derived DA neurons | 1. Increased α-synuclein aggregation 2. Increased oxidative stress |
| [55] | 1 PD line vs. 1 control line | Autosomal dominant Triplication | iPSC-derived cortical neurons | 1. Elevated α-synuclein 2. Increased oxidative stress |
| [59] | 1 PD line | Autosomal dominant Triplication | iPSC-derived DA progenitor cells | 1. Elevated α-synuclein levels 2. Increased oxidative stress 3. Increased cell death |
| [60] | 1 PD line vs. 1 control line | Autosomal dominant Triplication | iPSC-derived DA neurons | 1. Elevated α-synuclein levels 2. Altered Calcium signalling |
| [61] | 1 PD line vs. 1 control line | Autosomal dominant Triplication | iPSC-derived DA and basal forebrain cholinergic neurons | 1. Elevated α-synuclein levels 2. Increased α-synuclein aggregation 3. Increased DNA damage |
| [62] | 1 PD line vs. 3 control lines | Autosomal dominant Triplication | iPSC-derived DA neurons | 1. Elevated α-synuclein levels 2. Impairment in neuronal development 3. Increased α-synuclein phosphorylation 4. Increased cell death and apoptosis |
| [63] | 1 PD line vs. 1 control line | Autosomal dominant Triplication | iPSC-derived neuronal progenitor cells | 1. Elevated α-synuclein levels 2. Increased DNA damage |
| [51] | 1 PD line vs. 1 control line vs. 1 isogenic control line | Autosomal dominant Triplication | iPSC-derived cortical neurons | 1. Elevated α-synuclein levels 2. Mitochondrial dysfunction |
| [53] | 1 PD line vs. 2 control line | Autosomal dominant Duplication | iPSC-derived cortical forebrain glutamatergic neurons | 1. Elevated α-synuclein levels 2. Increased α-synuclein aggregation 3. Mitochondrial transport impairment |
| [49] | 1 PD line vs. 1 isogenic control line | Autosomal dominant A53T | iPSC-derived A9 DA neurons | 1. Mitochondrial dysfunction 2. Increased oxidative stress 3. Increased cell death and apoptosis 4. Neuronal maturation impairment |
| [46] | 2 PD lines vs. 1 control line | Autosomal dominant A53T and A30T | iPSC-derived neural stem cells | 1. Mitochondrial dysfunction |
| [64] | 2 PD line vs. 1 control line | Autosomal dominant A53T | iPSC-derived DA, GABAergic and glutaminergic neurons | 1. Altered synaptic activity 2. Increase α-synuclein aggregation 3. Impairment in Neuronal development |
| [52] | 1 PD line vs. 1 isogenic control line | Autosomal dominant A53T | iPSC-derived A9 DA neurons | 1. Mitochondrial transport impairment 2. Alteration in microtubules function |
| [50] | 4 PD lines vs. 3 control line | Autosomal dominant A53T and Triplication | iPSC-derived DA neurons | 1. Elevated α-synuclein levels 2. Endoplasmic Reticulum stress 3. Mitochondrial dysfunction 5. Increased autophagy 6. Increased oxidative stress |
| [65] | 1 PD line vs. 1 isogenic control line | Autosomal dominant A53T | iPSC-derived DA neurons | 1. Increased α-synuclein aggregation |
| [66] | 1 PD line vs. 1 control line | Autosomal dominant A53T | iPSC-derived DA neurons | 1. Elevated α-synuclein levels 2. Increased α-synuclein aggregation 3. Impairment in Neuronal development |
| [54] | 3 PD lines vs. 3 control lines | Autosomal dominant A53T and triplication | iPSC-derived DA neurons | 1. Elevated α-synuclein levels 2. Mitophagy impairment 3. Increased oxidative stress |
| [67] | 2 PD lines vs. 1 control line vs. 1 isogenic control line | Autosomal dominant A53T and triplication | iPSC-derived DA neurons | 1. Lysosomal dysfunction 2. Increased α-synuclein aggregation |