STUDYING THE MECHANISMS OF NEURODEGENERATIVE DISORDERS

Neurological Disorders And Stroke

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Abstract

The aim of this project is to characterize and isolate genes that are relevant in maintaining the proper function and integrity of the human nervous system, specifically genes associated with neurodegenerative diseases, by using the power of Drosophila genetics. Based on the fact that brain degeneration tends to be associated with reduced lifetime, systematic screens for short-life Drosophila mutants were carried out by P-element insertions and ethyl methane sulfonate (EMS) mutagenesis. The brain pathologies of short-life mutants were examined by microscopy, and then compared with certain human brain degenerative diseases. We found five brain degenerative mutants. bubblegum, spongecake, eggroll, chocolate chip, and meringue were named by virtue of their brain lesions. The bubblegum mutant fly has high levels of accumultaion of very long chain fatty acids, which is similar to human adrenoleukodystrophy. spongecake shows vacuoles in the optic lobe neuropil region, eggroll exhibits abnormal multilamellated inclusions in its brain and chocolate chip undergoes degeneration in the cortex. Retinal degeneration occurs as the meringue mutant ages.