A murine model of infantile neuronal ceroid lipofuscinosis - Ultrastructural evaluation of storage in the central nervous system and viscera

Pediatric and Developmental Pathology

Volumn 11, Issue 3, 2008, Pages 185-192

  Galvin, Nancy ^a   Vogler, Carole ^a,b   Levy, Beth ^a   Kovacs, Attila ^b   Griffey, Megan ^b   Sands, Mark S ^b  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Infantile neuronal ceroid lipofuscinosis; Lysosomal storage disease; Palmitoyl protein thioesterase; Santavuori Haltia disease

Indexed keywords

OSMIUM; PALMITOYL PROTEIN THIOESTERASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; AORTA MEDIA; ARTICLE; BIOACCUMULATION; BLINDNESS; BRAIN CELL; C57BL 6 MOUSE; CELL TYPE; CENTRAL NERVOUS SYSTEM; CONTROLLED STUDY; ENDOTHELIUM CELL; ENZYME DEFICIENCY; GLIA CELL; HEART DISEASE; HEART MUSCLE CELL; HIPPOCAMPUS; HOMOZYGOSITY; KIDNEY CELL; KUPFFER CELL; LIFESPAN; LIPID STORAGE; LIPOFUSCINOSIS; LIVER CELL; LYSOSOME; LYSOSOME STORAGE DISEASE; MACROPHAGE; MENTAL DEFICIENCY; MESANGIUM CELL; MOTOR DYSFUNCTION; MOUSE; NEURONAL CEROID LIPOFUSCINOSIS INFANTILE FINNISH TYPE; NEUROPATHOLOGY; NONHUMAN; OSTEOCYTE; PALMITOYL PROTEIN THIOESTERASE DEFICIENCY; PATHOPHYSIOLOGY; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PURKINJE CELL; RETINA CELL; SEIZURE; SMOOTH MUSCLE FIBER; VISCERA;

ANIMALS; BRAIN; DISEASE MODELS, ANIMAL; ECHOCARDIOGRAPHY, DOPPLER; HEART; INCLUSION BODIES; MICE; MICE, KNOCKOUT; MICROSCOPY, ELECTRON, TRANSMISSION; MYOCARDIUM; NEURONAL CEROID-LIPOFUSCINOSES; RETINA; THIOLESTER HYDROLASES; VISCERA;

EID: 48849084889     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/07-03-0242.1     Document Type: Article

References (27)

1. Jalanko A, Tyynela J, Peltonen L. From genes to systems: new global strategies for the characterization of NCL biology. Biochim Biophys Acta 2006; 1762:934-944.
2. Peltonen L, Savukoski M, Vesa J. Genetics of the neuronal ceroid lipofuscinoses. Curr Opin Genet Dev 2000;10:299-305.
3. Bennett MJ, Hofmann SL. The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases. J Inherit Metab Dis 1999;22:535-544.
4. Vesa J, Hellsten E, Verkruyse LA, et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 1995;376:584-587.
5. Griffey M, Bible E, Vogler C, et al. Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis. Neurobiol Dis 2004; 16:360-369.
6. Verkruyse LA, Hofmann SL. Lysosomal targeting of palmitoyl-protein thioesterase. J Biol Chem 1996;271:15831-15836.
7. Lu JY, Verkruyse LA, Hofmann SL. The effects of lysosomotropic agents on normal and INCL cells provide further evidence for the lysosomal nature of palmitoy 1-protein thioesterase function. Biochim Biophys Acta 2002;1583:35-44.
8. Haltia M, Herva R, Suopanki J, et al. Hippocampal lesions in the neuronal ceroid lipofuscinoses. Eur J Paediatr Neurol 2001;5(Suppl A):209-211.
9. Hofman IL, van der Wal AC, Dingemans KP, et al. Cardiac pathology in neuronal ceroid lipofuscinoses - a clinicopathologic correlation in three patients. Eur J Paediatr Neurol 2001;5(Suppl A):213-217.
10. Lonnqvist T, Vanhanen SL, Vettenranta K, et al. Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis. Neurology 2001;57:1411-1416.
11. Mitchison HM, Mole SE. Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease). Curr Opin Neurol 2001;14: 795-803.
12. Zhang Z, Butler JD, Levin SW, et al. Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood. Nat Med 2001;7:478-484.
13. Gupta P, Soyombo AA, Atashband A, et al. Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Proc Natl Acad Sci USA 2001;98:13566-13571.
14. Bible E, Gupta P, Hofmann SL, et al. Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosis. Neurobiol Dis 2004;16:346-359.
15. 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;25:150-162.
16. Woloszynek JC, Roberts M, Coleman T, et al. Numerous transcriptional alterations in liver persist after short-term enzyme-replacement therapy in a murine model of mucopolysaccharidosis type VII. Biochem J 2004;379:461-469.
17. Griffey MA, Wozniak D, Wong M, et al. CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis. Mol Ther 2006;13:538-547.
18. Griffey M, Macauley SL, Ogilvie JM, et al. AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis. Mol Ther 2005;12:413-421.
19. Gupta P, Soyombo AA, Shelton JM, et al. Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features. Proc Natl Acad Sci USA 2003;100:12325-12330.
20. Jalanko A, Vesa J, Manninen T, et al. Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons. Neurobiol Dis 2005;18:226-241.
21. Armstrong D, Lombard C, Ellis A. Electrocardiographic and histologic abnormalities in canine ceroid-lipofuscinosis (CCL). J Mol Cell Cardiol 1986;18:91-97.
22. Santavuori P, Gottlieb I, Haltia J, et al. CLN1 infantile and other types of NCl with GROD. In: Goebel H-H, Mole SE, Lake BD, eds. The Neuronal Ceroid Lipofuscinoses (Batten Disease). Amsterdam: IOS, 1999;16-36.
23. Liu Y, Xu L, Hennig AK, et al. Liver-directed neonatal gene therapy prevents cardiac, bone, ear, and eye disease in mucopolysaccharidosis I mice. Mol Ther 2005;11:35-47.
24. Reske-Nielsen E, Baandrup U, Bjerregaard P, et al. Cardiac involvement in juvenile amaurotic idiocy - a specific heart muscle disorder. Histological findings in 13 autopsied patients. Acta Pathol Microbiol Scand A 1981;89:357-365.
25. Michielsen P, Martin JJ, Vanagt E, et al. Cardiac involvement in juvenile ceroid lipofuscinosis of the Spielmeyer-Vogt-Sjogren type: prospective noninvasive findings in two siblings. Eur Neurol 1984;23: 166-172.
26. Gilbert-Harness E. Review: metabolic cardiomyopathy and conduction system defects in children. Ann Clin Lab Sci 2004;34:15-34.
27. Tomiyasu H, Takahashi W, Ohta T, et al. [An autopsy case of juvenile neuronal ceroid-lipofuscinosis with dilated cardiomyopathy]. Rinsho Shinkeigaku 2000;40:350-357.