The acid sphingomyelinase sequence variant p.A487V is not associated with decreased levels of enzymatic activity

JIMD Reports

Volumn 8, Issue , 2013, Pages 1-6

  Rhein, Cosima ^a   Naumann, Julia ^a   Mühle, Christiane ^a   Zill, Peter ^b   Adli, Mazda ^c   Hegerl, Ulrich ^d   Hiemke, Christoph ^e   Mergl, Roland ^d   Möller, Hans Jürgen ^b   Reichel, Martin ^a   Kornhuber, Johannes ^a  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c HUMBOLDT UNIVERSITY   (Germany)

^d UNIVERSITY OF LEIPZIG   (Germany)

^e UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

Human gene mutation database; Major depressive disorder; Major depressive disorder patient; Mdck cell

Indexed keywords

EID: 84908655582     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2012_147     Document Type: Chapter

References (20)

1. Adzhubei IA, Schmidt S, Peshkin L et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7 (4):248–249
2. Brady RO, Kanfer JN, Mock MB, Fredrickson DS (1966) The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick disease. Proc Natl Acad Sci U S A 55(2):366–369
3. Bromberg Y, Rost B (2007) SNAP: predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res 35(11):3823–3835
4. Dardis A, Zampieri S, Filocamo M, Burlina A, Bembi B, Pittis MG (2005) Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease. Hum Mutat 26(2):164
5. Desnick JP, Kim J, He X, Wasserstein MP, Simonaro CM, Schuchman EH (2010) Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease. Mol Med 16(7–8):316–321
6. Ehrhardt C, Schmolke M, Matzke A et al (2006) Polyethylenimine, a cost-effective transfection reagent. Signal Transduction 6:179–184
7. Harzer K, Rolfs A, Bauer P et al (2003) Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. Neuropediatrics 34 (6):301–306
8. He X, Chen F, Dagan A, Gatt S, Schuchman EH (2003) A fluorescence-based, high-performance liquid chromatographic assay to determine acid sphingomyelinase activity and diagnose types A and B Niemann-Pick disease. Anal Biochem 314(1):116–120
9. Jones I, He X, Katouzian F, Darroch PI, Schuchman EH (2008) Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models. Mol Genet Metab 95(3):152–162
10. Kornhuber J, Medlin A, Bleich S et al (2005) High activity of acid sphingomyelinase in major depression. J Neural Transm 112 (11):1583–1590
11. Pavlu-Pereira H, Asfaw B, Poupctova H et al (2005) Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. J Inherit Metab Dis 28 (2):203–227
12. Pinto R, Caseiro C, Lemos M et al (2004) Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 12(2):87–92
13. Ramensky V, Bork P, Sunyaev S (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30(17):3894–3900
14. Reichel M, Beck J, Müuhle C et al (2011) Activity of secretory sphingomyelinase is increased in plasma of alcohol-dependent patients. Alcohol Clin Exp Res 35(10):1852–1859
15. Rhein C, Tripal P, Seebahn A et al (2012) Functional implications of novel human acid sphingomyelinase splice variants. PLoS ONE 7(4):e35467
16. Schuchman EH, Miranda SR (1997) Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing. Genet Test 1(1):13–19
17. Schuchman EH, Suchi M, Takahashi T, Sandhoff K, Desnick RJ (1991) Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. J Biol Chem 266(13):8531–8539
18. Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH (2002) The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet 71(6):1413–1419
19. Wasserstein MP, Aron A, Brodie SE, Simonaro C, Desnick RJ, McGovern MM (2006) Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediatr 149(4):554–559
20. Wenger DA, Barth G, Githens JH (1977) Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes. Am J Dis Child 131(9):955–961