What can cell biology tell us about heterogeneity in lysosomal storage diseases?

Acta Paediatrica, International Journal of Paediatrics, Supplement

Volumn 94, Issue 447, 2005, Pages 80-86

  Gieselmann, V ^a  

^a UNIVERSITY OF BONN   (Germany)

Author keywords

Gaucher disease; GM2 gangliosidosis; Lysosomal storage diseases; Metachromatic leukodystrophy; Phenotypic variability

Indexed keywords

AGE DISTRIBUTION; CONFERENCE PAPER; CYTOLOGY; DISEASE COURSE; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; HEREDITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LIPIDOSIS; LYSOSOME STORAGE DISEASE; MICROGLIA; MISSENSE MUTATION; NULL ALLELE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN FOLDING; ALLELE; DISEASE SEVERITY; EPIGENETICS; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; PHENOTYPIC VARIATION; PREDICTION;

ALLELES; DNA, RECOMBINANT; ENDOPLASMIC RETICULUM; G(M2) GANGLIOSIDE; GANGLIOSIDOSES, GM2; GAUCHER DISEASE; HUMANS; LEUKODYSTROPHY, METACHROMATIC; LYSOSOMAL STORAGE DISEASES; PHENOTYPE; POINT MUTATION; TAY-SACHS DISEASE;

EID: 16844368968     PISSN: 08035326     EISSN: None     Source Type: Journal    
DOI: 10.1080/08035320510028210     Document Type: Conference Paper

References (23)

1. Cox TM. Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. J Inherit Metab Dis 2001;24 Suppl 2:106-21.
2. Lachmann RH, Grant IR, Halsall D, Cox TM. Twin pairs showing discordance of phenotype in adult Gaucher's disease. QJM 2004;97:199-204.
3. von Figura K, Gieselmann V, Jaeken J. Metachromatic leukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill 2001. p 3695-724.
4. Perusi C, Lira MG, Duyff RF, Weinstein HC, Pignatti PF, Rizzuto N, et al. Mutations associated with very late-onset metachromatic leukodystrophy. Clin Genet 1999;55:130.
5. Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill 2001. p 3635-68.
6. Mignot C, Gelot A, Bessières B, Daffos F, Voyer M, Menez F, et al. Perinatal-lethal Gaucher disease. Am J Med Genet 2003;120A:338-44.
7. Grabowski GA, Horowitz M. Gaucher's disease: molecular, genetic and enzymological aspects. Baillieres Clin Haematol 1997;10:635-56.
8. Beutler E, Nguyen NJ, Henneberger MW, Smolec JM, McPherson RA, West C, et al. Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet 1993;52:85-8.
9. Zhao H, Grabowski GA. Gaucher disease: perspectives on a prototype lysosomal disease. Cell Mol Life Sci 2002;59:694-707.
10. Leinekugel P, Michel S, Conzelmann E, Sandhoff K. Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. Hum Genet 1992;88:513-23.
11. Penzien JM, Kappler J, Herschkowitz N, Schuknecht B, Leinekugel P, Propping P, et al. Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease. Am J Hum Genet 1993;52:557-64.
12. Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K, Gieselmann V. Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med 1991;324:18-22.
13. von Bulow R, Schmidt B, Dierks T, Schwabauer N, Schilling K, Weber E, et al. Defective oligomerization of arylsulfatase A as a cause of its instability in lysosomes and metachromatic leukodystrophy. J Biol Chem 2002;277:9455-61.
14. Hess B, Kafert S, Heinisch U, Wenger DA, Zlotogora J, Gieselmann V. Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy. Hum Mutat 1996;7:311-7.
15. Kafert S, Heinisch U, Zlotogora J, Gieselmann V. A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme. Hum Genet 1995;95:201-4.
16. Kornfeld S, Mellman I. The biogenesis of lysosomes. Annu Rev Cell Biol 1989;5:483-525.
17. Schestag F, Yaghootfam A, Habetha M, Poeppel P, Dietz F, Klein RA, et al. The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A. Biochem J 2002;367:499-504.
18. Conzelmann E, Sandhoff K. Partial enzyme deficiencies: residual activities and the development of neurological disorders. Dev Neurosci 1983-84;6:58-71.
19. Wakamatsu N, Kobayashi H, Miyatake T, Tsuji S. A novel exon mutation in the human beta-hexosaminidase beta sub-unit gene affects 3′ splice site selection. J Biol Chem 1992;267:2406-13.
20. McInnes B, Potier M, Wakamatsu N, Melancon SB, Klavins MH, Tsuji S, et al. An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds. J Clin Invest 1992;90:306-14.
21. Matsuda J, Vanier MT, Saito Y, Suzuki K, Suzuki K. Dramatic phenotypic improvement during pregnancy in a genetic leukodystrophy: estrogen appears to be a critical factor. Hum Mol Genet 2001;10:2709-15.
22. Matsushima GK, Taniike M, Glimcher LH, Grusby MJ, Frelinger JA, Suzuki K, et al. Absence of MHC class II molecules reduces CNS demyelination, microglial/macrophage infiltration, and twitching in murine globoid cell leukodystrophy. Cell 1994;78:645-56.
23. 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;97:10954-9.