Loss of Maspardin Attenuates Growth of Mouse Neurons

Document Type


Degree Name

Master of Science (MS)


Biological and Environmental Sciences

Date of Award

Spring 2014


Mast syndrome is an autosomal-recessive, progressive form of hereditary spastic paraplegia (HSP), caused by a mutation in ACP33/maspardin gene. However, molecular function of maspardin remains unclear. Based on the preferential expression of maspardin in motor neurons, we hypothesized that maspardin regulates the growth of cortical neurons. To test this hypothesis, cortical neurons were isolated from wild type (ACP33+/+) and knockout (ACP33-/-) mice and their growth was compared in vitro. Relative to ACP33+/+, there was 3.6x reduction in the growth of ACP33-/- neurons at 96 hr (p<0.05). While the addition of EGF growth factor further increased the growth of ACP33+/+ neurons at 96 hr (2x, p<0.05), it had no effect in ACP33-/- neuronal growth. In summary, our results suggest that maspardin is indispensable for the growth and differentiation of cortical neurons. Deciphering molecular mechanisms of maspardin mediated motor neuronal growth may lead to strategies for reversing spastic paraplegia in mast syndrome patients.


Venugopalan Cheriyath

Subject Categories

Biochemistry, Biophysics, and Structural Biology | Life Sciences