Table 1.
Localization and local translation errors of different proteins in various diseases
mRNA | Disease | The original function | Location and Translation Errors | Reference |
---|---|---|---|---|
p110β | FXS | PI3K catalytic subunit and target mRNA of FMRP | Abnormal or maladjusted activity of PI3k | Gross et al. (2010) |
β-Actin | SMA | cytoskeletal protein | The β-actin mRNA of SMA motor neurons can be mislocated, causing axonal growth interference | Rossoll et al. (2003); |
Rathod et al. (2012) | ||||
HuD | SMA | Regulate target mRNA stability, translation, neurodevelopment and plasticity | Molecular motor defect, β-actin mRNA and the microtubule associated protein Tau mRNA were limited in axonal localization. | Fallini et al. (2011) |
GAP43 | SMA | Axon growth | Motor neuron axon growth defect | Fallini et al. (2016) |
tau | AD | Mainly located in axons and growth cones, regulating microtubule dynamics | Hyperphosphorylation leads to the loss of its specific axon location, re-aggregation in the cyton and dendrites, resulting in the formation of net | Aronov et al. (2001); |
Gauthier-Kemper et al. (2011); | ||||
Guo et al. (2017) | ||||
TDP-43 | ALS | Transport g4-containing mRNA from the nucleus to the neurite | The transport of axonal mRNA was damaged, the synthesis of FutsCH was blocked, and the normal action of microtubule cytoskeleton was affected | Ishiguro et al. (2016); Endo et al. (2018) |
FUS | ALS | Intracellular protein or mRNA transport plays a role in transcription, splicing, RNA localization, and DNA damage | Local ISR is triggered and local protein synthesis is inhibited, ultimately damaging the synaptic function of neurons | López-Erauskin et al. (2020) |
AD: Alzheimer’s disease; ALS: amyotrophic lateral sclerosis; FXS: fragile X syndrome; ISR: integrated stress response; SMA: spinal muscular atrophy.