ABSTRACT
The lysosomal storage diseases (LSDs) are a group of rare genetic progressive neurodegeneration conditions that primarily afflict infants and children. This chapter outlines findings regarding the major models of LSD that have so far been developed in Drosophila. Progress in understanding other forms of neurodegeneration has been greatly enhanced by the modelling of such conditions in the model organism, Drosophila melanogaster. LSDs present with an accumulation of material ‘stored’ in the late endosome/lysosomal system. In neurons, there are a number of obvious changes observable as a consequence of lysosomal storage. The possible pleiotropism of lysosomal dysfunction may generate many defects in cellular function. Neuronal ceroid lipofuscinoses are a group of nine LSDs characterised by accumulation of autofluorescent storage material, termed ceroid, or lipofuscin that is mostly composed of the mitochondrial ATP synthase subunit C. The sequenced genome and advanced genetics of the Drosophila system have had some early success and offer much potential for generating LSD models.
