An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity

European Journal of Human Genetics

Volumn 7, Issue 2, 1999, Pages 125-130

  Regis, Stefano ^a   Filocamo, Mirella ^a   Corsolini, Fabio ^a   Caroli, Francesco ^a   Keulemans, Joke L M ^b   Van Diggelen, Otto P ^b   Gatti, Rosanna ^a  

^a G GASLINI INSTITUTE   (Italy)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

Cerebroside sulphate activator; Metachromatic leukodystrophy; Sphingolipid activator proteins

Indexed keywords

ASPARAGINE; CEREBROSIDE SULFATASE; LYSINE; SPHINGOLIPID ACTIVATOR PROTEIN; SULFATIDE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; GENE MUTATION; HUMAN; MALE; METACHROMATIC LEUKODYSTROPHY; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; URINE LEVEL;

EID: 0033061033     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200266     Document Type: Article

References (23)

1. Sandhoff K, Harzer K, Fürst W: Sphingolipid activator proteins. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease, 7th edn. McGraw-Hill: New York, 1995, pp 2427-2441.
2. O'Brien JS, Kretz KA, Dewji N, Wenger DA, Esch F, Fluharty AL: Coding of two Sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus. Science 1988; 241: 1098-1101.
3. Nakano T, Sandhoff K, Stumper J, Christomanou H, Suzuki K: Structure of full-length cDNA coding for sulfatide activator, a co-beta-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator. J Biochem 1989; 105: 152-154.
4. Rorman EG, Scheinker V, Grabowski GA: Structure and evolution of the human prosaposin chromosomal gene. Genomics 1992; 13: 312-318.
5. Azuma N, O'Brien JS, Moser HW, Kishimoto Y: Stimulation of acid ceramidase activity by saposin D. Arch Biochem Biophys 1994; 311: 354-357.
6. Klein A, Henseler M, Klein C, Suzuki K, Harzer K, Sandhoff K: Sphingolipid activator protein D (sap-D) stimulates the lysosomal degradation of ceramide in vivo. Biochem Biophys Res Commun 1994; 200: 1440-1448.
7. O'Brien JS, Carson GS, Seo H-C, Hiraiwa M, Kishimoto Y: Identification of prosaposin as a neurotrophic factor. Proc Natl Acadi Sci USA 1994; 91: 9593-9596.
8. O'Brien JS, Carson GS, Seo H-C et al: Identification of the neurotrophic factor sequence of prosaposin. FASEB J 1995; 9: 681-685.
9. Hiraiwa M, Soeda S, Kishimoto Y, O'Brien JS: Binding and transport of gangliosides by prosaposin. Proc Natl Acad Sci USA 1992; 89: 11254-11258.
10. Liepinsh E, Andersson M, Ruysschaert JM, Otting G: Saposin fold revealed by the NMR structure of NK-lysin. Nat Struct Biol 1997; 4: 793-795.
11. Kudoh T, Wenger DA: Diagnosis of metachromatic leukodystrophy, Krabbe disease and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts. J Clin Invest 1982; 70: 89-97.
12. Hiraiwa M, Soeda S, Martin BM et al: The effect of carbohydrate removal on stability and activity of saposin B. Arch Biochem Biophys 1993; 303: 326-331.
13. Wrobe D, Henseler M, Chabas A, Sandhoff K: An unglycosylated, stable but inactive mutant (N215H) of the sphingolipid activator protein B in a novel case of metachromatic leukodystrophy.. XI European Study Group on Lysosomal Diseases Workshop 1997, p. 60 (abstract).
14. Kretz KA, Carson GS, Morimoto S, Kishimoto Y, Fluharty AL, O'Brien JS: Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. Proc Natl Acad Sci USA 1990; 87: 2541-2544.
15. Rafi MA, Zhang X-L, DeGala G, Wenger DA: Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. Biochem Biophys Res Commun 1996; 166: 1017-1023.
16. Shapiro LJ, Aleck KA, Kaback MM et al: Metachromatic leukodystrophy without arylsulfatase A deficiency. Pediatr Res 1979; 13: 1179-1181.
17. Zhang X-L, Rafi MA, DeGala G, Wenger DA: Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency. Proc Natl Acad Sci USA 1990; 87: 1426-1430.
18. Holtschmidt H, Sandhoff K, Kwon HY, Harzer K, Nakano T, Suzuki K: Sulfatide activator protein. J Biol Chem 1991; 266: 7556-7560.
19. Henseler M, Klein A, Reber M, Vanier MT, Landrieu P, Sandhoff K: Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy. Am J Hum Genet 1996; 58: 65-74.
20. Tsuda M, Sakiyama T, Endo H, Kitagawa T: The primary structure of mouse prosaposin. Biochem Biophys Res Commun 1992; 184: 1266-1272.
21. Collard MW, Sylvester SR, Tsuruta JK, Griswold MD: Biosynthesis and molecular cloning of sulfated glycoprotein 1 secreted by rat Sertoli cells: sequence similarity with the 70-kilodalton precursor to sulfatide/GM1 activator. Biochemistry 1988; 27: 4557-4564.
22. Stevens RL, Faull KF, Conklin KA, Green BN, Fluharty AL: Porcine cerebroside sulfate activator: further structural characterization and disulfide identification. Biochemistry 1993; 32: 4051-4059.
23. Azuma N, Seo H-C, Lie O et al: Cloning, expression and map assignment of chicken prosaposin. Biochem J 1998; 330: 321-327.