The contribution of multicellular model organisms to Neuronal Ceroid Lipofuscinosis research

Russell, C; Huber, R; Hughes, S; Wenfei Liu; Morgan, A; Tuxworth, R

Abstract

The NCLs (neuronal ceroid lipofuscinosis) are forms of neurodegenerative disease that affect people of all ages and ethnicities but are most prevalent in children. Commonly known as Batten disease, this debilitating neurological disorder is comprised of 13 different subtypes that are categorized based on the particular gene that is mutated (CLN1-8, CLN10-14). The pathological mechanisms underlying the NCLs are not well understood due to our poor understanding of the functions of NCL proteins. Only one specific treatment (enzyme replacement therapy) is approved, which is for the treating the brain in CLN2 disease. Hence there remains a desperate need for further research into disease-modifying treatments. In this review, we present and evaluate the genes, proteins and studies performed in the social amoeba, nematode, fruit fly, zebrafish, mouse and large animals pertinent to NCL. In particular, we highlight the use of multicellular model organisms to study NCL protein function, pathology and pathomechanisms. Their use in testing novel therapeutic approaches is also presented. With this information, we highlight how future research in these systems may be able to provide new insight into NCL protein functions in human cells and aid in the development of new therapies.

Citation

Russell, C., Huber, R., Hughes, S., Wenfei Liu, , Morgan, A., & Tuxworth, R. (2019). The contribution of multicellular model organisms to Neuronal Ceroid Lipofuscinosis research. https://doi.org/10.1016/j.bbadis.2019.165614

• Journal Article Type: Review
• Acceptance Date: Nov 15, 2019
• Publication Date: Nov 26, 2019
• Deposit Date: Nov 19, 2019
• Publicly Available Date: Nov 27, 2020
• Journal: Biochimica et Biophysica Acta-Molecular Basis of Disease
• Peer Reviewed: Peer Reviewed
• DOI: https://doi.org/10.1016/j.bbadis.2019.165614
• Public URL: https://rvc-repository.worktribe.com/output/1379615