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Several human health maladies have been linked to mutations impacting the cytoskeleton and motor proteins, including some listed below.
- Lissencephaly, a human disorder in which cells fail to migrate to the cerebral cortex of the developing brain
- Periventricular heterotopia, a medical disorder in which neurons fail to migrate to the cortex during brain development
- Familial hypertrophic cardiomyopathy, a common cause of sudden death in athletes, and a medical disorder involving an enlarged heart muscle
- Paralytic eye-movement disorder linked to beta-tubulin gene
- Bardet-Biedl syndrome is a ciliary disease leading to polycystic kidney disease, hearing loss, polydactly and other defect
For this post, pick one cytoskeletal disorder, and research it using Google or online libraries. Answer the following questions:
1. What are some basic facts about the disorder? (e.g. How common is it? What are the symptoms? Are there treatments available?)
2. What element of the cytoskeleton is impacted/mutated in this disorder? When the element is impacted/mutated, explain what fails to happen properly within the cell.
3. What questions do you have about this disorder?