Table 1 Neurodevelopmental disorders: mitochondrial dysfunction in patients’ derived stem cell models
Neurodevelopmental disorders | Type of cells | Oxidative stress | Mitochondrial dynamics | Oxphos metabolism | Organelle interplay | References |
|---|---|---|---|---|---|---|
Angelman Syndrome (UBE3A) | Neuronal progenitor cells | Increased ROS and oxidative stress | – | – | – | Simchi et al. 2023 |
Sporadic ADHD | Dopaminergic neurons | – | Reduced mitochondrial content and trafficking | Reduced ATP level | – | Nguyen et al. 2019 |
Sporadic Autism | Dopaminergic neurons | – | Reduced mitochondrial content | Reduced ATP level | – | Nguyen et al. 2018 |
CDKL5 deficiency disorder | Cortical neurons | – | Reduced mitochondrial trafficking velocity and increased stationary mitochondria | Reduction of expression of NDUFB8, SDHB, and COXII. Reduction in Complex I, II, and IV activities. Increased Citrate Synthase activity | – | Van Bergen et al. 2021 |
Cohen Syndrome (VPS13B) | Cortical neurons | – | Aberrant mitochondrial morphology | – | Increased ER-mitochondria contact sites | Shnaider et al. 2023 |
Down Syndrome | Dopaminergic neurons | Increased ROS | Reduced mitochondrial content | Reduced ATP level | – | Sun et al. 2021 |
Down Syndrome | GABAergic interneurons | – | Abnormal mitochondrial aggregation | Reduced level of basal respiration, ATP production, maximum respiration, and spare respiration capacity | – | Xu et al. 2022 |
Down Syndrome | Medial ganglionic eminence organoid | – | Abnormal mitochondrial aggregation | – | – | Xu et al. 2022 |
Fragile X Syndrome (FMRP) | Cortical neurons | – | Reduced mitochondrial content and aberrant morphology Reduced expression of fusion and mitochondrial biogenesis proteins and increased fission proteins | Reduced ATP level | – | Shen et al. 2023 |