Evaluation of neurodegeneration in a mouse model of infantile batten disease by magnetic resonance imaging and magnetic resonance spectroscopy

Neurodegenerative Diseases

Volumn 9, Issue 4, 2012, Pages 159-169

  Munasinghe, Jeeva ^a   Zhang, Zhongjian ^b   Kong, Eryan ^b   Heffer, Alison ^b   Mukherjee, Anil B ^b  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Infantile batten disease; Infantile neuronal ceroid lipofuscinosis; Magnetic resonance imaging; Magnetic resonance spectroscopy; Neurodegeneration; Neuronal ceroid lipofuscinosis

Indexed keywords

ULTRASMALL SUPERPARAMAGNETIC IRON OXIDE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN ATROPHY; BRAIN BLOOD FLOW; BRAIN SIZE; CELL LOSS; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; DEGENERATIVE DISEASE; HISTOPATHOLOGY; IMMUNOHISTOCHEMISTRY; IN VIVO STUDY; INFANTILE BATTEN DISEASE; MACROGLIA; MOUSE; NERVE CELL; NEUROIMAGING; NEURONAL CEROID LIPOFUSCINOSIS; NON INVASIVE PROCEDURE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SCANNER; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SIGNAL NOISE RATIO; WILD TYPE;

AGING; ANIMALS; ASTROCYTES; BRAIN; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; FEMALE; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; NEURODEGENERATIVE DISEASES; NEURONAL CEROID-LIPOFUSCINOSES; NEURONS; ORGAN SIZE; THIOLESTER HYDROLASES;

EID: 84862782323     PISSN: 16602854     EISSN: 16602862     Source Type: Journal    
DOI: 10.1159/000334838     Document Type: Article

References (46)

1. Proia RL, Wu YP: Blood to brain to the rescue. J Clin Invest 2004; 113: 1108-1110. (Pubitemid 38544093)
2. Sly WS, Vogler C: Brain-directed gene therapy for lysosomal storage disease: going well beyond the blood-brain barrier. Proc Natl Acad Sci USA 2002; 99: 5760-5762. (Pubitemid 34493211)
3. Goebel HH, Wisniewski KE: Current state of clinical and morphological features in human NCL. Brain Pathol 2004; 14: 61-69. (Pubitemid 38200591)
4. Haltia M: The neuronal ceroid-lipofuscinoses: from past to present. Biochim Biophys Acta 2006; 1762: 850-856. (Pubitemid 44740121)
5. Hobert JA, Dawson G: Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future. Biochim Biophys Acta 2006; 1762: 945-953. (Pubitemid 44740122)
6. Hofmann SL, Peltonen L: The neuronal ceroid lipofuscinoses; in Scriver CR, et al (eds): The Metabolic and Molecular Bases of Inherited Disease, ed 8. New York, McGraw-Hill, 2001, pp 3877-3894.
7. Jalanko A, Braulke T: Neuronal ceroid lipofuscinoses. Biochim Biophys Acta 2009; 1793: 697-709.
8. Mitchison HM, Mole SE: Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease). Curr Opin Neurol 2001; 14: 795-803. (Pubitemid 34060120)
9. Mole SE: The genetic spectrum of human neuronal ceroid-lipofuscinoses. Brain Pathol 2004; 14: 70-76. (Pubitemid 38200592)
10. Siintola E, Lehesjoki AE, Mole SE: Molecular genetics of the NCLs -status and perspectives. Biochim Biophys Acta 2006; 1762: 857-864. (Pubitemid 44740124)
11. Cooper JD, Russell C, Mitchison HM: Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 2006; 1762: 873-889. (Pubitemid 44740126)
12. Resh M: Palmitoylation of ligands, receptors, and intracellular signaling molecules. Sci STKE 2006; 2006:re14.
13. Smotrys JE, Linder ME: Palmitoylation of intracellular signaling proteins: regulation and function. Annu Rev Biochem 2004; 73: 559-587. (Pubitemid 39050380)
14. Linder ME, Deschenes RJ: Palmitoylation: policing protein stability and traffic. Nat Rev Mol Cell Biol 2007; 8: 74-84. (Pubitemid 46012016)
15. Kang R, Wan J, Arstikaitis P, Takahashi H, Huang K, Bailey AO, Thompson JX, Roth AF, Drisdel RC, Mastro R, Green WN, Yates JR 3rd, Davis NG, El-Husseini A: Neural palmitoyl-proteomics reveals dynamic synaptic palmitoylation. Nature 2008; 456: 904-909.
16. Lu JY, Verkruyse LA, Hofmann SL: Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect by recombinant palmitoyl-protein thioesterase. Proc Natl Acad Sci USA 1996; 93: 10046-10050. (Pubitemid 26314571)
17. Duncan JA, Gilman AG: A cytoplasmic acylprotein thioesterase that removes palmitate from G protein alpha subunits and p21RAS. J Biol Chem 1998; 273: 15830-15837. (Pubitemid 28298205)
18. Tomatis VM, Trenchi A, Gomez GA, Daniotti JL: Acyl-protein thioesterase 2 catalyzes the deacylation of peripheral membrane-associated GAP-43. PLoS One 2010; 5:e15045.
19. Camp LA, Hofmann SL: Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras. J Biol Chem 1993: 268: 22566-22574. (Pubitemid 23318311)
20. Camp LA, Verkruyse LA, Afendis SJ, Slaughter CA, Hofmann SL: Molecular cloning and expression of palmitoyl-protein thioesterase. J Biol Chem 1994: 269: 23212-23219. (Pubitemid 24283309)
21. Gupta P, Soyombo AA, Atashband A, Wisniewski KE, Shelton JM, Richardson JA, Hammer RE, Hofmann SL: Disruption of PPT1 or PPT2 causes ceriod lipofuscinosis in knockout mice. Proc Natl Acad Sci USA 2001; 98: 13566-1357.
22. Verkruyse LA, Hofmann SL: Lysosomal targeting of palmitoyl-protein thioesterase. J Biol Chem 1996; 271: 15831-15836. (Pubitemid 26225364)
23. Hellsten E, Vesa J, Olkkonen VM, Jalanko A, Peltonen L: Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis. EMBO J 1996; 15: 5240-5245. (Pubitemid 26336207)
24. Baekkeskov S, Kanaani J: Palmit oylation cycles and regulation of protein function (review). Mol Membr Biol 2009; 26: 42-54.
25. Salaun C, Greaves J, Chamberlain LH: The intracellular dynamic of protein palmitoylation. J Cell Biol 2010; 191: 1229-1238.
26. Vesa J, Hellsten E, Verkruvse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L: Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 1995; 376: 584-587.
27. Gupta P, Soyombo AA, Atashband A, Wisniewski KE, Shelton JM, Richardson JA, Hammer RE, Hofmann SL: Disruption of PPT1 and PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Proc Natl Acad Sci USA 2001; 98: 13566-13571. (Pubitemid 33115938)
28. 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 lipofuscinoses. Neurobiol Dis 2004; 16: 346-359. (Pubitemid 38757316)
29. Kielar C, Maddox L, Bible E, Pontikis CC, Macauley SL, Griffey MA, Wong M, Sands MS, Cooper JD: Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis. Neurobiol Dis 2007; 25: 150-162. (Pubitemid 44802811)
30. Levin SW, Baker EH., Gropman A, Quezado Z, Miao N, Zhang Z, Jollands A, Di Capua M, Caruso R, Mukherjee AB: Subdural fluid collections in patients with infantile neuronal ceroid lipofuscinoses. Arch Neurol 2009; 66: 1567-1571.
31. Erichsen AK, Server A, Landrø NI, Sandvik L, Tallaksen CM: Proton magnetic resonance spectroscopy and cognition with spastin mutations. J Neurol Sci 2009; 277: 124-129.
32. Tkáč I, Starčuk Z, Choi IY, Gruetter R: In vivo 1H NMR spectroscopy of rat brain at 1 ms echo time. Magn Reson Med 1999; 41: 649-656. (Pubitemid 29205710)
33. Kim SJ, Zhang ZJ, Hitomi E, Lee YC, Mukherjee AB: Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL. Hum Mol Genet 2006; 15: 1826-1834. (Pubitemid 43821773)
34. Zhang Z, Lee YC, Kim SJ, Choi MS, Tsai PC, Xu Y, Xiao YJ, Zhang P, Heffer A, Mukherjee AB: Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL. Hum Mol Genet 2006; 15: 337-346. (Pubitemid 43125987)
35. Wei H, Kim SJ, Zhang Z, Tsai PC, Wisniewski KE, Mukherjee AB: ER-and oxidativestresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones. Hum Mol Genet 2008; 17: 469-477. (Pubitemid 351201763)
36. Wei H, Zhang Z, Saha A, Peng S, Chandra G, Quezado Z, Mukherjee AB: Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol. Hum Mol Genet 2011; 20: 1111-1121.
37. Zhang Z, Lee YC, Kim SJ, Choi MS, Tsai PC, Saha A, Wei H, Xu Y, Xiao YJ, Zhang P, Heffer A, Mukherjee AB: Production of lysophosphatidylcholine by cPLA2 in the brain of mice lacking PPT1 is a signal for phagocyte infiltration. Hum Mol Genet 2007; 16: 837-847. (Pubitemid 47061629)
38. Rau PR, Sellner J, Heiland S, Plaschke K, Schellinger PD, Meyding-Lamadé UK, Lamadé WR: Apparent diffusion coefficient in the aging mouse brain: a magnetic resonance imaging study. Life Sci 2006; 78: 1175-1180. (Pubitemid 43176711)
39. Le Bihan D: Looking into the functional architecture of the brain with diffusion MRI. Nat Rev Neurosci 2003; 4: 469-480. (Pubitemid 37280168)
40. Guilfoyle DN, Dyakin VV, O'Shea J, Pell GS, Helpern JA: Quantitative measurements of proton spin-lattice (T1) and spin-spin (T2) relaxation times in the mouse brain at 7.0 T. Magn Reson Med 2003; 49: 576-580. (Pubitemid 36262828)
41. Mintorovitch J, Moseley ME, Chileuitt L, Shimizu H, Cohen Y, Weinstein PR: Comparison of diffusion-and T2-weighted MRI for the early detection of cerebral ischemia and reperfusion in rats. Magn Reson Med 1991; 18: 39-50.
42. Wu EX, Wong KK, Andrassy M, Tang H: High-resolution in vivo CBV mapping with MRI in wild-type mice. Magn Reson Med 2003; 49: 765-770. (Pubitemid 36389988)
43. Blamire AM, Anthony DC, Rajagopalan B, Sibson NR, Perry VH, Styles P: D2 interleukin-1beta-induced changes in blood-brain barrier permeability, apparent diffusion coefficient, and cerebral blood volume in the rat brain: a magnetic resonance study. J Neurosci 2000; 20: 8153-8159.
44. Julien-Dolbec C, Tropres I, Montigon O, Reutenauer H, Ziegler A, Decorps M, Payen JF: Regional response of cerebral blood volume to graded hypoxic hypoxia in rat brain. Br J Anaesthesia 2002; 89: 287-293.
45. Swain RA, Harris AB, Wiener EC, Dutka MA, Morris HD, Theien BE, Konda S, Engberg K, Lauterbur PC, Greenouh WT: Prolonged exercise induces angiogenesis and increases cerebral blood volume in primary motor cortex of the rat. Neuroscience 2003; 117: 1037-1046. (Pubitemid 36332321)
46. Corot C, Robert P, Idée J-M, Port M: Recent advances in iron oxide nanocrystal technology for medical imaging. Ad Drug Deliv Rev 2006; 58: 1471-1504. (Pubitemid 44820503)