Role of ANO10 in Spinocerebellar Ataxia

SCAR10 is a form of inherited cerebellar ataxia that mainly affects the cerebellum with marked atrophy of this brain region. The patients with this neurological disease show a progressive loss of coordination of limbs and gait, dysarthria (impaired speech), and moderate mental retardation. SCAR10 is caused by mutations that affect the ANO10 gene. This gene codes for a novel type of protein that resides in cell membranes. However, the precise site of ANO10 protein within the cell, its physiological role, and the mechanism through which its loss of function causes ataxia are unknown. Our study aims at elucidating the role of ANO10. For this purpose we will identify neuronal cells with expression of ANO10 and silence its expression by using a technique called RNA interference (RNAi). After ANO10 silencing, we will analyze the cells using different types of assays that will detect possible changes in the electrical excitability and inter-neuron transmission. Our results will help to elucidate the link between ANO10 and cerebellar ataxia and possibly reveal the involvement of this protein also in other neurological diseases.