Metallothioneins as dynamic markers for brain disease in lysosomal disorders

Annals of Neurology

Volumn 75, Issue 1, 2014, Pages 127-137

  Cesani, Martina ^a,b   Cavalca, Eleonora ^a   Macco, Romina ^c,d   Leoncini, Giuseppe ^d   Terreni, Maria Rosa ^d   Lorioli, Laura ^a,c   Furlan, Roberto ^d   Comi, Giancarlo ^c,d   Doglioni, Claudio ^c,d   Zacchetti, Daniele ^c,d   Sessa, Maria ^a,d   Scherzer, Clemens R ^b,e   Biffi, Alessandra ^a  

^a SAN RAFFAELE SCIENTIFIC INSTITUTE   (Italy)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^d SAN RAFFAELE HOSPITAL   (Italy)

^e The Harvard Center for Neurodegeneration & Repair   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMALS; BIOLOGICAL MARKERS; COCULTURE TECHNIQUES; DISEASE MODELS, ANIMAL; HUMANS; LEUKOCYTES, MONONUCLEAR; LEUKODYSTROPHY, METACHROMATIC; LYSOSOMAL STORAGE DISEASES; METALLOTHIONEIN; MICE; MICE, INBRED C57BL; MOLECULAR DYNAMICS SIMULATION; PRIMARY CELL CULTURE;

EID: 84894066177     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24053     Document Type: Article

References (36)

1. Vellodi A,. Lysosomal storage disorders. Br J Haemat 2005; 128: 413-431.
2. Kolodny EH, Sathe S., Metachromatic Leukodistrophy and Multiple Sulfatase Deficiency: Sulfatide Lipidosis. In:, Rosenberg RN, DiMauro S, Paulson HL, Ptàcek L, Nestler EJ, editors The molecular and genetic basis of neurologic and psychiatric disease. 4th ed. Lippincott Williams & Wilkins: 2007: p. 230-238.
3. von Figura K, Jaeken J,. Metachromatic leukodystrophy. In:, Scriver CR, Beaudet AL, Valle D, Sly WS, editors The metabolic and molecular bases of inherited diseases. 8th ed. New York: MacGraw-Hill; 2001. p. 3695-3724.
4. Cesani M, Capotondo A, Plati T, et al. Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy. Hum Mutat 2009; 30: E936-E945.
5. Biffi A, Cesani M, Fumagalli F, et al. Metachromatic leukodystrophy- mutation analysis provides further evidence of genotype-phenotype correlation. Clin Genet 2008; 74: 349-357.
6. Biffi A, Capotondo A, Fasano S, et al. Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice. J Clin Invest 2006; 116: 3070-3082.
7. Piguet F, Sondhi D, Piraud M, et al. Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice. Hum Gene Ther 2012; 23: 903-914.
8. Biffi A, Montini E, Lorioli L, et al. Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science 2013; 341: 1233158.
9. Stroobants S, Gerlach D, Matthes F, et al. Intracerebroventricular enzyme infusion corrects central nervous system pathology and dysfunction in a mouse model of metachromatic leukodystrophy. Hum Mol Genet 2011; 20: 2760-2769.
10. Scherzer CR, Eklund AC, Morse LJ, et al. Molecular markers of early Parkinson's disease based on gene expression in blood. Proc Natl Acad Sci U S A 2007; 104: 955-960.
11. Jellinger KA, Janetzky B, Attems J, Kienzl E,. Biomarkers for early diagnosis of Alzheimer disease: 'ALZheimer ASsociated gene'-a new blood biomarker? J Cell Mol Med 2008; 12: 1094-1117.
12. Vogt MH, Lopatinskaya L, Smits M, et al. Elevated osteopontin levels in active relapsing-remitting multiple sclerosis. Ann Neurol 2003; 53: 819-822.
13. Sumner CJ, Kolb SJ, Harmison GG, et al. SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials. Neurology 2006; 66: 1067-1073.
14. Woods GM,. R.M. L. Cellular interaction and IL2 requirements of PHA-induced human T-lymphocyte colonies. Exp Hematol 1984; 12: 301-308.
15. Ferrero E, Manfredi A, Bianchi E, Schonheit A, Sabbadini MG, Rugarli C., Interleukin 2 and mitogen driven proliferation in human peripheral mononuclear cells: a kinetic analysis. Haematologica 1989; 74: 355-358.
16. Goudy K, Aydin D, Barzaghi F, et al. Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity. Clin Immunol 2013; 146: 248-261.
17. Shah SN, Johnson RC, Minn K, Schoenfeld F., Arylsulfatase A and beta-galactosidase activities in leukocytes and lymphocytes from normal and psychiatric subjects. Effects of blood-processing delay and interleukin-2 stimulation. Mol Chem Neuropathol 1995; 24:43-52
18. Neufeld EF,. Lysosomal storage diseases. Annu Rev Biochem 1991; 60: 257-280.
19. Escolar ML, Poe MD, Provenzale JM, et al. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med 2005; 352: 2069-2081.
20. Visigalli I, Moresco RM, Belloli S, et al. Monitoring disease evolution and treatment response in lysosomal disorders by the peripheral benzodiazepine receptor ligand PK11195. Neurobiol Dis 2009; 34: 51-62.
21. Suzuki K, Suzuki K., The twitcher mouse: a model for Krabbe disease and for experimental therapies. Brain Pathol 1995; 5: 249-258.
22. Ohno M, Komiyama A, Martin PM, Suzuki K., Proliferation of microglia/macrophages in the demyelinating CNS and PNS of twitcher mouse. Brain Res 1995; 602: 268 -274.
23. Klassen RB, Crenshaw K, Kozyraki R, et al. Megalin mediates renal uptake of heavy metal metallothionein complexes. Am J Physiol Renal Physiol 1994; 287: F393-F403.
24. May P, Herz J, Bock HH,. Molecular mechanisms of lipoprotein receptor signaling. Cell Mol Life Sci 2005; 62: 2325-2338.
25. Chung RS, Penkowa M, Dittmann J, et al. Redefining the role of metallothionein within the injured brain: extracellular metallothioneins play an important role in the astrocyte-neuron response to injury. J Biol Chem 2008; 283: 15349-15358.
26. Wada R, Tifft CJ, Proia RL,. Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation. Proc Natl Acad Sci USA 2000; 97: 10954-10959.
27. Chung RS, Adlard PA, Dittmann J, et al. Neuron-glia communication: metallothionein expression is specifically up-regulated by astrocytes in response to neuronal injury. J Neurochem 2004; 88: 454-461.
28. Fuller M, Meikle PJ, Hopwood JJ., Epidemiology of lysosomal storage diseases: an overview. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006.
29. Hidalgo J, Aschner M, Zatta P, Vasak M,. Roles of the metallothionein family of proteins in the central nervous system. Brain Res Bull 2001; 55: 133-145.
30. Ebadi M, Brown-Borg H, El Refaey H, et al. Metallothionein-mediated neuroprotection in genetically engineered mouse models of Parkinson's disease. Brain Res 2005; 134: 67-75.
31. Gong YH, Elliott JL,. Metallothionein expression is altered in a transgenic murine model of familial amyotrophic lateral sclerosis. Exp Neurol 2000; 162: 27-36.
32. Settembre C, Fraldi A, Jahreiss L, et al. A block of autophagy in lysosomal storage disorders. Hum Mol Genet 2008; 17: 119-129.
33. Baird SK, Kurz T, Brunk UT,. Metallothionein protects against oxidative stress-induced lysosomal destabilization. Biochem J 2006; 394 (pt 1): 275-283.
34. Kawashita E, Tsuji D, Kawashima N, et al. Abnormal production of macrophage inflammatory protein-1alpha by microglial cell lines derived from neonatal brains of Sandhoff disease model mice. J Neurochem 2009; 109: 1215-1224.
35. Filippon L, Vanzin CS, Biancini GB, et al. Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy. Mol Genet Metab 2011; 103: 121-127.
36. Scherzer CR,. Chipping away at diagnostics for neurodegenerative diseases. Neurobiol Dis 2009; 35: 148-156.