Answer to Question #282348 in Cell Biology for philip

Question

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.

Answer 1

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.