Investigating links between MND and RNA biology

About the project

Despite increasing knowledge about the genetic defects responsible for motor neurone diseases including SMA and ALS, it is still not clear how cells are damaged or why motor neurones are particularly sensitive. Defects in the processing and/or transport of various types of RNA are, however, emerging as common themes. We are using a combination of cell and molecular biology approaches including live cell microscopy, ultra-structural analysis and interactomics to identify key cellular pathways that are altered in MND. Our most recent finding is an interaction between the Survival Motor Neuron protein and the essential neural protein, Neurochondrin. The most likely cellular location for this interaction is in cytoplasmic trafficking vesicles and we are currently investigating the function(s) of these vesicles. We are also investigating potential overlaps between the molecular pathologies of SMA, ALS and Myotonic Dystrophy involving RNA binding proteins.


Muscular Dystrophy UK, Wellcome Trust, MND Scotland


Thompson LW, Morrison KD, Shirran SL, Groen EJN, Gillingwater TH, Botting CH, Sleeman JE
Neurochondrin interacts with the SMN protein suggesting a novel mechanism for spinal muscular atrophy pathology
J Cell Sci. 2018 Apr 17;131(8). pii: jcs211482
Prescott AR, Bales A, James J, Trinkle-Mulcahy L, Sleeman JE
Time-resolved quantitative proteomics implicates the core snRNP protein SmB together with SMN in neural trafficking
J Cell Sci. 2014 Feb 15;127(Pt 4):812-27

Primary location

St Andrews

Principal Investigator

Other people involved

Bobby Beamont (PhD student)

Kim Vincent (PhD student)