Question #282348
Question 5: Which organ and cell type are primarily affected by the mutation? Is this consistent with the symptoms observed in SCA1 patients?
Mice are generally a good model for human diseases, if you wish, you can read more about the benefits of the mouse model on The Jackson Laboratory website <span style="color:#E90167">Advantages of the mouse as a model organism</span>.
Mouse models of SCA1 have been developed and helped researchers to understand this disease and to experiment with new treatments.
Expert's answer
The Purkinje cells in the cerebral cortex are affected by the ataxin 1 mutation, which largely affects the brain. The symptoms are physically consistent with how the mutation affects the brain, in that Purkinje cells help to balance activities.
