Spastin

Spastin is a protein that in humans is encoded by the SPAST gene. It is a member of the AAA protein family (ATPases associated with diverse cellular activities), and it is involved in the cytoskeleton organization and dynamics. Mutations in this gene are associated with spastic paraplegia type 4, also known as SPG4.

Function

Spastin is a microtubule-severing protein. It is involved in the formation of the axon initial segment (AIS) and the maintenance of the nervous system's architecture. It also plays a role in the regulation of the central nervous system's development.

Clinical significance

Mutations in the SPAST gene are the most common cause of hereditary spastic paraplegia (HSP). This condition is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. HSP is classified into two types: pure and complex. The pure form is characterized by spasticity in the lower limbs and urinary bladder disturbances. The complex form may include additional neurological features such as ataxia, seizures, cognitive impairment, and peripheral neuropathy.

Research

Research into Spastin has increased our understanding of the mechanisms of axonal transport and the pathogenesis of HSP. It has also provided potential targets for therapeutic intervention.

See also

• Hereditary spastic paraplegia
• Microtubule
• Axon
• Neurology