Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease

Rhein C, Mühle C, Kornhuber J, Reichel M (2015)

Publication Type: Journal article

Publication year: 2015

Journal

International Journal of Molecular Sciences MDPI

Book Volume: 16

Pages Range: 13649-52

Journal Issue: 6

DOI: 10.3390/ijms160613649

Abstract

Loss-of-function mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene are associated with decreased catalytic activity of acid sphingomyelinase (ASM) and are the cause of the autosomal recessive lysosomal storage disorder Niemann-Pick disease (NPD) types A and B. Currently, >100 missense mutations in SMPD1 are listed in the Human Gene Mutation Database. However, not every sequence variation in SMPD1 is detrimental and gives rise to NPD. We have analysed several alleged SMPD1 missense mutations mentioned in a recent publication and found them to be common variants of SMPD1 that give rise to normal in vivo and in vitro ASM activity. (Comment on Manshadi et al. Int. J. Mol. Sci. 2015, 16, 6668-6676).

Authors with CRIS profile

Christiane Mühle Department of Psychiatry and Psychotherapy Johannes Kornhuber Lehrstuhl für Psychiatrie und Psychotherapie Martin Reichel Department of Psychiatry and Psychotherapy

How to cite

APA:

Rhein, C., Mühle, C., Kornhuber, J., & Reichel, M. (2015). Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease. International Journal of Molecular Sciences, 16(6), 13649-52. https://doi.org/10.3390/ijms160613649

MLA:

Rhein, Cosima, et al. "Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease." International Journal of Molecular Sciences 16.6 (2015): 13649-52.

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