Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance

K Evans, C Keller, K Pavur… - Proceedings of the …, 2006 - National Acad Sciences
K Evans, C Keller, K Pavur, K Glasgow, B Conn, B Lauring
Proceedings of the National Academy of Sciences, 2006National Acad Sciences
Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder that is characterized
by retrograde axonal degeneration that primarily affects long spinal neurons. The disease is
clinically heterogeneous, and there are> 20 genetic loci identified. Here, we show a physical
interaction between spastin and atlastin, two autosomal dominant HSP gene products.
Spastin encodes a microtubule (MT)-severing AAA ATPase (ATPase associated with various
activities), and atlastin encodes a Golgi-localized integral membrane protein GTPase …
Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder that is characterized by retrograde axonal degeneration that primarily affects long spinal neurons. The disease is clinically heterogeneous, and there are >20 genetic loci identified. Here, we show a physical interaction between spastin and atlastin, two autosomal dominant HSP gene products. Spastin encodes a microtubule (MT)-severing AAA ATPase (ATPase associated with various activities), and atlastin encodes a Golgi-localized integral membrane protein GTPase. Atlastin does not regulate the enzymatic activity of spastin. We also identified a clinical mutation in atlastin outside of the GTPase domain that prevents interaction with spastin in cells. Therefore, we hypothesize that failure of appropriate interaction between these two HSP gene products may be pathogenetically relevant. These data indicate that at least a subset of HSP genes may define a cellular biological pathway that is important in axonal maintenance.
National Acad Sciences