Researchers from King’s College London. Dr Bradley Smith and colleagues screened genetic data of an unusually high number of people of European origin finding that specific mutations in the ANXA11 gene are associated with around 1% of all familial ALS/MND and 1.7% of all sporadic ALS/MND cases. While this may seem like a small percentage, it is another great finding that can tell us more about the mechanisms of MND.
The MND Research Blog report from the paper published on 4 May in Science Translational Medicine journal that that ANXA11 mutations lead to a reduced ability of calcyclin to bind and may result in accumulation of annexin A11 in motor neurones as a consequence, ultimately causing their death. Now that the researchers know another gene that is implicated in developing ALS, they want to look at the process of how this causes death of motor neurones in more detail. Specifically, they will investigate how exactly the role of vesicular transport and calcyclin binding is affected. The researchers will use tissue from people who donated their brain and spinal cord for research and they will also model the function of calcyclin and ANXA11 in neuronal cells and using zebrafish models of MND. See here for more info https://mndresearch.wordpress.com/2017/05/04/anxa11-another-gene-closer-to-understanding-als/