Synaptic changes in the thalamocortical system of cathepsin D-deficient mice: A model of human congenital neuronal ceroid-lipofuscinosis

Journal of Neuropathology and Experimental Neurology

Volumn 67, Issue 1, 2008, Pages 16-29

  Partanen, Sanna ^a   Haapanen, Aleksi ^a   Kielar, Catherine ^b   Pontikis, Charles ^b   Alexander, Noreen ^b   Inkinen, Teija ^a   Saftig, Paul ^c   Gillingwater, Thomas H ^d   Cooper, Jonathan D ^b   Tyynelä, Jaana ^a,e  

^a UNIVERSITY OF HELSINKI   (Finland)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF KIEL   (Germany)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Cathepsin D; Electron microscopy; Lysosome; Neurodegeneration; Stereology; Synapse; Thalamus

Indexed keywords

CATHEPSIN D; HETERODIMER; SNARE PROTEIN; SYNAPTOBREVIN; SYNAPTOPHYSIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ASTROCYTOSIS; BRAIN MAPPING; CELL ACTIVATION; COMPLEX FORMATION; CONTROLLED STUDY; ELECTRON MICROSCOPY; IMMUNOREACTIVITY; LYSOSOME; MICROGLIA; MOLECULAR INTERACTION; MOUSE; NERVE DEGENERATION; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; PRESYNAPTIC POTENTIAL; PRIORITY JOURNAL; SOMATOSENSORY CORTEX; STEREOMETRY; SYNAPSE; THALAMOCORTICAL TRACT; THALAMUS POSTERIOR NUCLEUS; ULTRASTRUCTURE;

ANIMALS; ANTIGENS, DIFFERENTIATION; ATROPHY; BRAIN; CATHEPSIN D; CELL DEATH; DISEASE MODELS, ANIMAL; GENE EXPRESSION REGULATION; MICE; MICE, INBRED C57BL; NERVE TISSUE PROTEINS; NEURAL PATHWAYS; NEURONAL CEROID-LIPOFUSCINOSES; NEURONS; SOMATOSENSORY CORTEX; SYNAPSES; THALAMUS;

EID: 37549057968     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1097/nen.0b013e31815f3899     Document Type: Article

References (34)

1. Press EM, Porter RR, Cebra J. The isolation and properties of a proteolytic enzyme, Cathepsin D, from bovine spleen. Biochem J 1960;74:501-51
2. Faust PL, Kornfield S, Cirgwin JM. Cloning and sequence analysis of cDNA for human cathepsin D. Proc Natl Acad Sci U S A 1985;82:4910-4
3. Glondu M, Coopman P, Laurent-Matha V, Garcia M, Rochefort H, Liaudet-Coopman E. A mutated cathepsin-D devoid of its catalytic activity stimulates the growth of cancer cells. Oncogene 2001;20:6920-9
4. Jäättelä M, Candé C, Kroemer G. Lysosomes and mitochondria in the commitment to apoptosis: A potential role for cathepsin D and AIF. Cell Death Differ 2004;11:135-6
5. Tyynelä J, Sohar I, Sleat DE, et al. A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration. EMBO J 2000;19:2786-92
6. Siintola E, Partanen S, Strömme P, et al. Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain 2006;129:1438-45
7. Koike M, Nakanishi H, Saftig P, et al. Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons. J Neurosci 2000;20:6898-906
8. Saftig P, Hetman M, Schmahl W, et al. Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells. EMBO J 1995;14:3599-608
9. Haltia M. The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol 2003;62:1-13
10. Tyynelä J. Neuronal ceroid-lipofuscinoses. In: Saftig P. ed. Lysosomes. Georgetown, TX: Landes Bioscience/Eurekah.com, 2005:82-99
11. Nakanishi H, Zhang J, Koike M, et al. Involvement of nitric oxide released from microglia-macrophages in pathological changes of cathepsin D-deficient mice. J Neurosci 2001;21:7526-33
12. Bible E, Gupta P, Hofmann SL, Cooper JD. Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis. Neurobiol Dis 2004;16:346-59
13. Paxinos G, Franklin KBJ. The Mouse Brain in Stereotaxic Coordinates, 2nd ed. San Diego, CA: Academic Press, 2001
14. Pontikis CC, Cotman SL, Macdonald ME, Cooper JD. Thalamocortical neuron loss and localized astrocytosis in the Cln3(Deltaex7/8) knock-in mouse model of Batten disease. Neurobiol Dis 2005;20:823-36
15. Gundersen HJ, Jensen EB. The efficiency of systematic sampling in stereology and its prediction. J Microsc 1987;147:229-63
16. s mice after cortical lesion. Brain 2006;129:1546-56
17. Raivich G, Bohatschek M, Kloss CU, Werner A, Jones LL, Kreutzberg GW. Neuroglial activation repertoire in the injured brain: Graded response, molecular mechanisms and cues to physiological function. Brain Res Brain Res Rev 1999;30:77-105
18. Reisinger C, Yelamanchili SV, Hinz B, et al. The synaptopysin/ synaptobrevin complex dissociates independently of neuroexocytosis. J Neurochem 2004;90:1-8
19. Garborg I, Torvik A, Hals J, Tangsrud SE, Lindemann R. Congenital neuronal ceroid lipofuscinosis. A case report. Acta Pathol Microbiol Immunol Scand [A] 1987;95:119-25
20. Haltia M, Rapola J, Santavuori P. Infantile type of so-called neuronal ceroid-lipofuscinosis. Acta Neuropathol (Berl) 1973;26:157-70
21. Autti T, Raininko R, Vanhanen SL, Santavuori P. Magnetic resonance techniques in neuronal ceroid lipofuscinoses and some other lysosomal diseases affecting the brain. Curr Opin Neurol 1997;10:519-24
22. Kielar C, Maddox L, Bible E, et al. Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis. Neurobiol Dis 2007;25:150-62
23. Weimer JM, Custer AW, Benedict JW, et al. Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neurons. Neurobiol Dis 2006;22:284-93
24. Oliet SH, Piet R, Poulain DA. Control of glutamate clearance and synaptic efficacy by glial coverage of neurons. Science 2001;292:923-6
25. Piet R, Poulain DA, Oliet SH. Modulation of synaptic transmission by astrocytes in the rat supraoptic nucleus. J Physiol Paris 2002;96:231-6
26. Volterra A, Meldolesi J. Astrocytes, from brain glue to communication elements: The revolution continues. Nat Rev Neurosci 2005;6:626-40
27. Lauronen L, Huttunen J, Kirveskari E, et al. Enlarged SI and SII somatosensory evoked responses in the CLN5 form of neuronal ceroid lipofuscinosis. Clin Neuropysiol 2002;113:1491-500
28. Goldstein LS. Do disorders of movement cause movement disorders and dementia? Neuron 2003;40:415-25
29. Koike M, Shibata M, Waguri S, et al. Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease). Am J Pathol 2005;167:1713-28
30. Edelmann L, Hanson PI, Chapman ER, Jahn R. Synaptobrevin binding to synaptophysin: A potential mechanism for controlling the exocytotic fusion machine. EMBO J 1995;14:224-31
31. Tarsa L, Goda Y. Synaptophysin regulates activity-dependent synapse formation in cultured hippocampal neurons. Proc Natl Acad Sci U S A 2002;22:1012-6
32. Hinz B, Becher A, Mitter D, et al. Activity-dependent changes of the presynaptic synaptophysin-synaptobrevin complex in adult rat brain. Eur J Cell Biol 2001;80:615-9
33. 2+-dependent formation of a dynamin-synaptophysin complex. J Biol Chem 2002;277:9010-5
34. Virmani T, Gupta P, Liu X, Kavalali ET, Hofmann SL. Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice. Neurobiol Dis 2005;20:314-23