Presenilins in synaptic function and disease

Trends in Molecular Medicine

Volumn 17, Issue 11, 2011, Pages 617-624

  Ho, Angela ^a   Shen, Jie ^b,c  

^a USA   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PRESENILIN; PRESENILIN 1; PRESENILIN 2;

ALZHEIMER DISEASE; BRAIN NERVE CELL; CALCIUM HOMEOSTASIS; CALCIUM TRANSPORT; CELL SURVIVAL; DEGENERATIVE DISEASE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC ANALYSIS; LEARNING; LONG TERM POTENTIATION; MEMORY; NERVE CELL PLASTICITY; NEUROTRANSMITTER RELEASE; NONHUMAN; PATHOGENESIS; PRESYNAPTIC POTENTIAL; PROTEIN FUNCTION; REVIEW; SYNAPSE;

ALZHEIMER DISEASE; ANIMALS; CALCIUM; CEREBRAL CORTEX; HOMEOSTASIS; HUMANS; MUTATION, MISSENSE; PRESENILIN-1; SYNAPSES;

MUS;

EID: 80755145989     PISSN: 14714914     EISSN: 1471499X     Source Type: Journal    
DOI: 10.1016/j.molmed.2011.06.002     Document Type: Review

References (64)

1. Scheff S.W., et al. Hippocampal synaptic loss in early Alzheimer's disease and mild cognitive impairment. Neurobiol. Aging 2006, 27:1372-1384.
2. Amtul Z., et al. A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch. Neurobiol. Dis. 2002, 9:269-273.
3. Dermaut B., et al. A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Ann. Neurol. 2004, 55:617-626.
4. Raux G., et al. Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. Neurology 2000, 55:1577-1578.
5. Lee V.M., et al. Neurodegenerative tauopathies. Annu. Rev. Neurosci. 2001, 24:1121-1159.
6. Boeve B.F., et al. Frontotemporal dementia and parkinsonism associated with the IVS1+1G→A mutation in progranulin: a clinicopathologic study. Brain 2006, 129:3103-3114.
7. Saura C.A., et al. Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration. Neuron 2004, 42:23-36.
8. Zhang C., et al. Presenilins are essential for regulating neurotransmitter release. Nature 2009, 460:632-636.
9. Dumanchin C., et al. Presenilins interact with Rab11, a small GTPase involved in the regulation of vesicular transport. Hum. Mol. Genet. 1999, 8:1263-1269.
10. Laudon H., et al. A nine-transmembrane domain topology for presenilin 1. J. Biol. Chem. 2005, 280:35352-35360.
11. De Strooper B., Annaert W. Novel research horizons for presenilins and gamma-secretases in cell biology and disease. Annu. Rev. Cell Dev. Biol. 2010, 26:235-260.
12. Wakabayashi T., De Strooper B. Presenilins: members of the gamma-secretase quartets, but part-time soloists too. Physiology (Bethesda) 2008, 23:194-204.
13. Marambaud P., et al. A presenilin-1/gamma-secretase cleavage releases the E-cadherin intracellular domain and regulates disassembly of adherens junctions. EMBO J. 2002, 21:1948-1956.
14. Tu H., et al. Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations. Cell 2006, 126:981-993.
15. Lee J.H., et al. Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations. Cell 2010, 141:1146-1158.
16. Kang D.E., et al. Presenilin couples the paired phosphorylation of beta-catenin independent of axin: implications for beta-catenin activation in tumorigenesis. Cell 2002, 110:751-762.
17. Soriano S., et al. Presenilin 1 negatively regulates beta-catenin/T cell factor/lymphoid enhancer factor-1 signaling independently of beta-amyloid precursor protein and notch processing. J. Cell Biol. 2001, 152:785-794.
18. Shen J., et al. Skeletal and CNS defects in Presenilin-1-deficient mice. Cell 1997, 89:629-639.
19. Donoviel D.B., et al. Mice lacking both presenilin genes exhibit early embryonic patterning defects. Genes Dev. 1999, 13:2801-2810.
20. Handler M., et al. Presenilin-1 regulates neuronal differentiation during neurogenesis. Development 2000, 127:2593-2606.
21. Kim W.Y., Shen J. Presenilins are required for maintenance of neural stem cells in the developing brain. Mol. Neurodegener. 2008, 3:2.
22. Wines-Samuelson M., et al. Role of presenilin-1 in cortical lamination and survival of Cajal-Retzius neurons. Dev. Biol. 2005, 277:332-346.
23. Wines-Samuelson M., Shen J. Presenilins in the developing, adult, and aging cerebral cortex. Neuroscientist 2005, 11:441-451.
24. Yang X., et al. Notch activation induces apoptosis in neural progenitor cells through a p53-dependent pathway. Dev. Biol. 2004, 269:81-94.
25. Yu H., et al. APP processing and synaptic plasticity in presenilin-1 conditional knockout mice. Neuron 2001, 31:713-726.
26. Pratt K.G., et al. A novel role for {gamma}-secretase: selective regulation of spontaneous neurotransmitter release from hippocampal neurons. J. Neurosci. 2011, 31:899-906.
27. Saura C.A., et al. Conditional inactivation of presenilin 1 prevents amyloid accumulation and temporarily rescues contextual and spatial working memory impairments in amyloid precursor protein transgenic mice. J. Neurosci. 2005, 25:6755-6764.
28. Dewachter I., et al. Neuronal deficiency of presenilin 1 inhibits amyloid plaque formation and corrects hippocampal long-term potentiation but not a cognitive defect of amyloid precursor protein [V717I] transgenic mice. J. Neurosci. 2002, 22:3445-3453.
29. Auffret A., et al. Progressive age-related impairment of the late long-term potentiation in Alzheimer's disease presenilin-1 mutant knock-in mice. J. Alzheimers Dis. 2010, 19:1021-1033.
30. Sun X., et al. Hippocampal spatial memory impairments caused by the familial Alzheimer's disease-linked presenilin 1 M146V mutation. Neurodegener Dis. 2005, 2:6-15.
31. Auffret A., et al. Age-dependent impairment of spine morphology and synaptic plasticity in hippocampal CA1 neurons of a presenilin 1 transgenic mouse model of Alzheimer's disease. J. Neurosci. 2009, 29:10144-10152.
32. Feng R., et al. Forebrain degeneration and ventricle enlargement caused by double knockout of Alzheimer's presenilin-1 and presenilin-2. Proc. Natl. Acad. Sci. U.S.A. 2004, 101:8162-8167.
33. Wines-Samuelson M., et al. Characterization of age-dependent and progressive cortical neuronal degeneration in presenilin conditional mutant mice. PLoS ONE 2010, 5:e10195.
34. Peethumnongsin E., et al. Convergence of presenilin- and tau-mediated pathways on axonal trafficking and neuronal function. J. Neurosci. 2010, 30:13409-13418.
35. Watanabe H., et al. Indirect regulation of presenilins in CREB-mediated transcription. J. Biol. Chem. 2009, 284:13705-13713.
36. Zhang D., et al. Inactivation of presenilins causes pre-synaptic impairment prior to post-synaptic dysfunction. J. Neurochem. 2010, 115:1215-1221.
37. Knight D., et al. Presynaptic plasticity and associative learning are impaired in a Drosophila presenilin null mutant. Dev. Neurobiol. 2007, 67:1598-1613.
38. Shimizu H., et al. Use-dependent amplification of presynaptic Ca2+ signaling by axonal ryanodine receptors at the hippocampal mossy fiber synapse. Proc. Natl. Acad. Sci. U.S.A. 2008, 105:11998-12003.
39. +) stores in signalling and exocytosis. Biochem. Soc. Trans. 2010, 38:529-535.
40. Tabuchi K., et al. Conditional forebrain inactivation of nicastrin causes progressive memory impairment and age-related neurodegeneration. J. Neurosci. 2009, 29:7290-7301.
41. Xu X., et al. Mediator is a transducer of amyloid-precursor-protein-dependent nuclear signalling. EMBO Rep. 2011, 12:216-222.
42. Cao X., Sudhof T.C. A transcriptionally [correction of transcriptively] active complex of APP with Fe65 and histone acetyltransferase Tip60. Science 2001, 293:115-120.
43. Inoue E., et al. Synaptic activity prompts gamma-secretase-mediated cleavage of EphA4 and dendritic spine formation. J. Cell Biol. 2009, 185:551-564.
44. Bittner T., et al. Gamma-secretase inhibition reduces spine density in vivo via an amyloid precursor protein-dependent pathway. J. Neurosci. 2009, 29:10405-10409.
45. LaFerla F.M. Calcium dyshomeostasis and intracellular signalling in Alzheimer's disease. Nat. Rev. Neurosci. 2002, 3:862-872.
46. Mattson M.P. ER calcium and Alzheimer's disease: in a state of flux. Sci. Signal. 2010, 3:pe10.
47. + channels in cultured cortical neurons. J. Neurophysiol. 2005, 94:4421-4429.
48. Leissring M.A., et al. Capacitative calcium entry deficits and elevated luminal calcium content in mutant presenilin-1 knockin mice. J. Cell Biol. 2000, 149:793-798.
49. Yoo A.S., et al. Presenilin-mediated modulation of capacitative calcium entry. Neuron 2000, 27:561-572.
50. Green K.N., et al. SERCA pump activity is physiologically regulated by presenilin and regulates amyloid beta production. J. Cell Biol. 2008, 181:1107-1116.
51. Cheung K.H., et al. Mechanism of Ca2+ disruption in Alzheimer's disease by presenilin regulation of InsP3 receptor channel gating. Neuron 2008, 58:871-883.
52. Stutzmann G.E., et al. Enhanced ryanodine receptor recruitment contributes to Ca2+ disruptions in young, adult, and aged Alzheimer's disease mice. J. Neurosci. 2006, 26:5180-5189.
53. Cheung K.H., et al. Gain-of-function enhancement of IP3 receptor modal gating by familial Alzheimer's disease-linked presenilin mutants in human cells and mouse neurons. Sci. Signal. 2010, 3:ra22.
54. Zatti G., et al. Presenilin mutations linked to familial Alzheimer's disease reduce endoplasmic reticulum and Golgi apparatus calcium levels. Cell Calcium 2006, 39:539-550.
55. Nelson O., et al. Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1. J. Clin Invest. 2007, 117:1230-1239.
56. Shen J., Kelleher R.J. The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism. Proc. Natl. Acad. Sci. U.S.A. 2007, 104:403-409.
57. Michno K., et al. Intracellular calcium deficits in Drosophila cholinergic neurons expressing wild type or FAD-mutant presenilin. PLoS ONE 2009, 4:e6904.
58. Beglopoulos V., et al. Reduced beta-amyloid production and increased inflammatory responses in presenilin conditional knock-out mice. J. Biol. Chem. 2004, 279:46907-46914.
59. Goldberg M.S., et al. Nigrostriatal dopaminergic deficits and hypokinesia caused by inactivation of the familial Parkinsonism-linked gene DJ-1. Neuron 2005, 45:489-496.
60. Kitada T., et al. Impaired dopamine release and synaptic plasticity in the striatum of PINK1-deficient mice. Proc. Natl. Acad. Sci. U.S.A. 2007, 104:11441-11446.
61. Kitada T., et al. Impaired dopamine release and synaptic plasticity in the striatum of parkin-/- mice. J. Neurochem. 2009, 110:613-621.
62. Tong Y., et al. R1441C mutation in LRRK2 impairs dopaminergic neurotransmission in mice. Proc. Natl. Acad. Sci. U.S.A. 2009, 106:14622-14627.
63. Abeliovich A., et al. Mice lacking alpha-synuclein display functional deficits in the nigrostriatal dopamine system. Neuron 2000, 25:239-252.
64. Nemani V.M., et al. Increased expression of alpha-synuclein reduces neurotransmitter release by inhibiting synaptic vesicle reclustering after endocytosis. Neuron 2010, 65:66-79.