Spongecake and eggroll: two hereditary diseases in Drosophila resemble patterns of human brain degeneration  Kyung-Tai Min, Seymour Benzer  Current Biology 

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Spongecake and eggroll: two hereditary diseases in Drosophila resemble patterns of human brain degeneration  Kyung-Tai Min, Seymour Benzer  Current Biology  Volume 7, Issue 11, Pages 885-888 (November 1997) DOI: 10.1016/S0960-9822(06)00378-2

Figure 1 Reduced lifespan in brain degeneration mutants. Survival of the mutants spongecake and eggroll compared with flies of the parent strain (w1118). Each initial population was approximately 100 flies, raised to adulthood at 25°C. (a) Newly eclosed adults placed at 29°C. (b) Maintained at 25°C. The phenotype of spongecake is temperature dependent. Current Biology 1997 7, 885-888DOI: (10.1016/S0960-9822(06)00378-2)

Figure 2 Brain degeneration in mutant flies aged at 29°C. (a–c) Horizontal sections (1 μm) of plastic-embedded heads, stained with toluidine blue [3]. (a) Ten-day-old fly of the parent strain (w1118). (b) Thirteen-day-old spongecake mutant; degeneration marked by vacuolization occurs predominantly in the synaptic neuropils of the optic lobes. (c) Ten-day-old eggroll mutant. Vacuolization in this mutant extends over a wider territory. (d,e) Silver staining [15] of axons in the spongecake brain. (d) Newly eclosed mutant has normal axonal architecture. (e) After 13 days at 29°C, the axons have greatly deteriorated. Scale bar = 50 μm. Current Biology 1997 7, 885-888DOI: (10.1016/S0960-9822(06)00378-2)

Figure 3 Ultrastructural defects in the spongecake mutant. (a) Medulla neuropil region of parent strain fly (after 13 days at 29°C), showing essentially normal structure consisting of intermingled axons (Ax), glial processes (GI) and dark synaptic endings (arrows). (b)spongecake mutant after one day at 29°C. Two clusters of enlarged axons can be seen (arrows). (c)spongecake after 11 days at 29°C, showing increased number of abnormal structures. (d) Higher magnification of a cluster, apparently consisting of several enlarged axons, bounded by glial processes. (e) Coalesced vacuolar structure. (f) A similar membrane-bound vacuole in human brain neuropil associated with Creutzfeldt-Jakob disease, a prion disease (adapted from [7]). Scale bars = 2 μm. Current Biology 1997 7, 885-888DOI: (10.1016/S0960-9822(06)00378-2)

Figure 4 Ultrastructural abnormalities in the eggroll mutant. (a) Medulla neuropil in eggroll after one day at 29°C already contains cytoplasmic inclusion bodies (arrows); these occur in both neurons and glia. They appear to be precursors of the multilamellar structures seen in (b–e) in the neuropil after 9 days at 29°C. Intracellular structures often envelop mitochondria, as seen in (c) and (e,f). Concentric membranous cytoplasmic bodies (MCBs) in Tay-Sachs disease (adapted from [8]). Scale bars = 1 μm. Current Biology 1997 7, 885-888DOI: (10.1016/S0960-9822(06)00378-2)