Voelcker Academy

Research Symposium 2009

 

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Elizabeth Arriaga

Genetic dissection of neurodegeneration in DCTN1 mutations

Elizabeth Arriaga

Mentor(s): Dr. Benjamin Eaton

Illustration showing the dynactin complex and P50 transgenic mouse model. Arp-1, a component of the dynactin complex, was identified in an RNAi screen for genes involved in synaptic stability (Eaton et al., 2002). Disruption of the dynactin complex in motoneurons results in lower motor disease in mice and synaptic retractions at the Drosophila NMJ. Additionally, familial and sporadic mutations in the human Glued/P150 gene (DCTN1) have been linked to ALS (Puls et al., 2003; Munich et al, 2004). These observations have led to the hypothesis that impaired trophic signaling due to defective dynactin function within the motoneuron underlies the cause of neurodegeneration in these mutations.