Alpha Synuclein, cellular dysfunction and Parkinson disease

National Institute On Aging

Investigators

Linked publications, trials & patents

Abstract

Our work on a-synuclein is currently focussed on applying large scale screening approaches to understand the pathobiology associated with this protein, which is now known to not only be a marker of disease but also plays an active role in disease progression. We have continued to work on methodological approaches to be able to detect phosphorylation of alpha-synuclein in tissues, which is thought to be a marker of conversion from normal protein to a pathological form. We have also developed a new isogenic resource for SNCA IPSC lines where a pair of lines from SNCA p.A53T carriers, one affected with PD at time of collection and one not, were reverted back to wild type sequence. Ongoing work in the lab is aimed at combining these techniques into an evaluation of how endogenous mutations affect SNCA function in neurons.