Aberrant lysosomal carbohydrate storage accompanies endocytic defects and neurodegeneration in Drosophila benchwarmer

Lysosomal storage is the most common cause of neurodegenerative brain disease in preadulthood. However, the underlying cellular mechanisms that lead to neuronal dysfunction are unknown. Here, we report that loss of Drosophila benchwarmer (bnch), a predicted lysosomal sugar carrier, leads to carbohydrate storage in yolk spheres during oogenesis and results in widespread accumulation of enlarged lysosomal and late endosomal inclusions. At the bnch larval neuromuscular junction, we observe similar inclusions and find defects in synaptic vesicle recycling at the level of endocytosis. In addition, loss of bnch slows endosome-to-lysosome trafficking in larval garland cells. In adult bnch flies, we observe age-dependent synaptic dysfunction and neuronal degeneration. Finally, we find that loss of bnch strongly enhances tau neurotoxicity in a dose-dependent manner. We hypothesize that, in bnch, defective lysosomal carbohydrate efflux leads to endocytic defects with functional consequences in synaptic strength, neuronal viability, and tau neurotoxicity.

[1]  P. Verstreken,et al.  Dap160/Intersectin Acts as a Stabilizing Scaffold Required for Synaptic Development and Vesicle Endocytosis , 2004, Neuron.

[2]  Anthony H. Futerman,et al.  The cell biology of lysosomal storage disorders , 2004, Nature Reviews Molecular Cell Biology.

[3]  A. Krogh,et al.  A combined transmembrane topology and signal peptide prediction method. , 2004, Journal of molecular biology.

[4]  M. Renlund,et al.  Neuropathology of Salla disease , 2004, Acta Neuropathologica.

[5]  J. Trojanowski,et al.  Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease , 2004, Acta Neuropathologica.

[6]  Nancy M Bonini,et al.  Human neurodegenerative disease modeling using Drosophila. , 2003, Annual review of neuroscience.

[7]  P. De Camilli,et al.  Cell biology of the presynaptic terminal. , 2003, Annual review of neuroscience.

[8]  Jane Anne Horne,et al.  Endophilin Promotes a Late Step in Endocytosis at Glial Invaginations in Drosophila Photoreceptor Terminals , 2003, The Journal of Neuroscience.

[9]  Sunil Q. Mehta,et al.  Synaptojanin Is Recruited by Endophilin to Promote Synaptic Vesicle Uncoating , 2003, Neuron.

[10]  P. Hiesinger,et al.  Mapping Drosophila mutations with molecularly defined P element insertions , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[11]  D. Yamamoto,et al.  HSpin1, a transmembrane protein interacting with Bcl-2/Bcl-xL, induces a caspase-independent autophagic cell death , 2003, Cell Death and Differentiation.

[12]  T. Ohm,et al.  Spatial and temporal distribution of intracellular free cholesterol in brains of a Niemann–Pick type C mouse model showing hyperphosphorylated tau protein. Implications for Alzheimer's disease , 2003, The Journal of pathology.

[13]  F. Platt,et al.  Storage diseases: new insights into sphingolipid functions. , 2003, Trends in cell biology.

[14]  J. Cooper Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis , 2003, Current opinion in neurology.

[15]  P. Saftig,et al.  At the acidic edge: emerging functions for lysosomal membrane proteins. , 2003, Trends in cell biology.

[16]  M. Mckeown,et al.  blue cheese Mutations Define a Novel, Conserved Gene Involved in Progressive Neural Degeneration , 2003, The Journal of Neuroscience.

[17]  G. Davis,et al.  Unrestricted Synaptic Growth in spinster—a Late Endosomal Protein Implicated in TGF-β-Mediated Synaptic Growth Regulation , 2002, Neuron.

[18]  M. Ramaswami,et al.  Spinsters, Synaptic Defects, and Amaurotic Idiocy , 2002, Neuron.

[19]  B. S. Baker,et al.  Gene Expression During the Life Cycle of Drosophila melanogaster , 2002, Science.

[20]  Y. Kidokoro,et al.  Selective Replenishment of Two Vesicle Pools Depends on the Source of Ca2+ at the Drosophila Synapse , 2002, Neuron.

[21]  D. Geschwind,et al.  Human Wild-Type Tau Interacts with wingless Pathway Components and Produces Neurofibrillary Pathology in Drosophila , 2002, Neuron.

[22]  I. Meinertzhagen,et al.  Endophilin Mutations Block Clathrin-Mediated Endocytosis but Not Neurotransmitter Release , 2002, Cell.

[23]  Miratul M. K. Muqit,et al.  Modelling neurodegenerative diseases in Drosophila: a fruitful approach? , 2002, Nature Reviews Neuroscience.

[24]  D. Yamamoto,et al.  Zebrafish yolk‐specific not really started (nrs) gene is a vertebrate homolog of the Drosophila spinster gene and is essential for embryogenesis , 2002, Developmental dynamics : an official publication of the American Association of Anatomists.

[25]  H. Bellen,et al.  Hrs Regulates Endosome Membrane Invagination and Tyrosine Kinase Receptor Signaling in Drosophila , 2002, Cell.

[26]  S. Walkley New proteins from old diseases provide novel insights in cell biology , 2001, Current opinion in neurology.

[27]  R. Ueda,et al.  Mutations in the Novel Membrane Protein Spinster Interfere with Programmed Cell Death and Cause Neural Degeneration inDrosophila melanogaster , 2001, Molecular and Cellular Biology.

[28]  D. German,et al.  Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemann‐Pick C disease , 2001, The Journal of comparative neurology.

[29]  J. Trojanowski,et al.  Neurodegenerative tauopathies. , 2001, Annual review of neuroscience.

[30]  Frans,et al.  Glucose Transport in Lysosomal Membrane Vesicles , 2001 .

[31]  P. Mathews,et al.  The neuronal endosomal-lysosomal system in Alzheimer's disease. , 2001, Journal of Alzheimer's disease : JAD.

[32]  B. Dickson,et al.  Analysis of Drosophila photoreceptor axon guidance in eye-specific mosaics. , 2000, Development.

[33]  Peter J. van der Spek,et al.  A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases , 1999, Nature Genetics.

[34]  R. Steward,et al.  Lis1, the Drosophila homolog of a human lissencephaly disease gene, is required for germline cell division and oocyte differentiation. , 1999, Development.

[35]  J. Hardy,et al.  Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau , 1998, Nature Neuroscience.

[36]  I. Paulsen,et al.  Major Facilitator Superfamily , 1998, Microbiology and Molecular Biology Reviews.

[37]  S. Walkley Cellular Pathology of Lysosomal Storage Disorders , 1998, Brain pathology.

[38]  S. Benzer,et al.  Spongecake and eggroll: two hereditary diseases in Drosophila resemble patterns of human brain degeneration , 1997, Current Biology.

[39]  N. Perrimon,et al.  The autosomal FLP-DFS technique for generating germline mosaics in Drosophila melanogaster. , 1996, Genetics.

[40]  C. Overly,et al.  Dynamic Organization of Endocytic Pathways in Axons of Cultured Sympathetic Neurons , 1996, The Journal of Neuroscience.

[41]  F. Fagotto Regulation of yolk degradation, or how to make sleepy lysosomes. , 1995, Journal of cell science.

[42]  R. Nixon,et al.  The endosomal-lysosomal system of neurons: new roles , 1995, Trends in Neurosciences.

[43]  C. Overly,et al.  Quantitative measurement of intraorganelle pH in the endosomal-lysosomal pathway in neurons by using ratiometric imaging with pyranine. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[44]  A. Kania,et al.  P-element mutations affecting embryonic peripheral nervous system development in Drosophila melanogaster. , 1995, Genetics.

[45]  H. Gutzeit,et al.  Glycogen stores in mature ovarian follicles and young embryos of Drosophila: ultrastructural changes and some biochemical correlates. , 1994, European Journal of Cell Biology.

[46]  P. Hollenbeck Products of endocytosis and autophagy are retrieved from axons by regulated retrograde organelle transport , 1993, The Journal of cell biology.

[47]  R. Parton,et al.  Axonal and dendritic endocytic pathways in cultured neurons , 1992, The Journal of cell biology.

[48]  W. Betz,et al.  Activity-dependent fluorescent staining and destaining of living vertebrate motor nerve terminals , 1992, The Journal of neuroscience : the official journal of the Society for Neuroscience.

[49]  G. Mancini,et al.  Glucose transport in lysosomal membrane vesicles. Kinetic demonstration of a carrier for neutral hexoses. , 1990, The Journal of biological chemistry.

[50]  W. Stark,et al.  Rhabdomere turnover and rhodopsin cycle: maintenance of retinula cells inDrosophila melanogaster , 1988, Journal of neurocytology.

[51]  D. Ready,et al.  Cell fate in the Drosophila ommatidium. , 1987, Developmental biology.

[52]  A. Mahowald,et al.  Female sterile (1) yolkless: a recessive female sterile mutation in Drosophila melanogaster with depressed numbers of coated pits and coated vesicles within the developing oocytes , 1987, The Journal of cell biology.

[53]  R. Brady,et al.  Lysosomal Storage Diseases , 1986, The Lancet.

[54]  K. Ikeda,et al.  Reversible blockage of membrane retrieval and endocytosis in the garland cell of the temperature-sensitive mutant of Drosophila melanogaster, shibirets1 , 1983, The Journal of cell biology.

[55]  W. Pak,et al.  On-Transient of Insect Electroretinogram: Its Cellular Origin , 1971, Science.