Table 1.
In vitro characteristics and in vivo detection of RAN translation
| Disorder | Repeat | RAN protein (in vitro) | Threshold (in vitro) | Tissue (in vivo) | Refs. |
|---|---|---|---|---|---|
| SCA8 | CAG | polyGln | >42 repeats | ATG-polyGln, cerebellum and brain stem (14) | (11) |
| polyAla | >73 repeats | Cerebellum | (11) | ||
| polySer | >58 repeats | ND | (11) | ||
| DM1 | CAGa | polyGln | ND | Myoblasts, skeletal muscle, peripheral blood leukocytes | (11) |
| FXTAS | CGG | polyGly | >30 repeats | Frontal cortex, cerebellum, hippocampus | (24) |
| polyAla | >88 repeats | ND | (24) | ||
| polyArg | UD | ND | (24) | ||
| ALS/FTD | GGGGCC | polyGlyPro | >145 repeats | Cerebellum, hippocampus, iPSC-derived neurons, neocortex, medial and lateral geniculate nuclei, testes | (25–27) |
| polyGlyAla | >38 repeats | Cerebellum, hippocampus | (26) | ||
| polyGlyArg | UD | Cerebellum, hippocampus | (26) |
ND, not examined and not determined; UD, examined but undetermined.
aAntisense transcript.