Next Article in Journal
Enzymatic Polymerization on DNA Modified Gold Nanowire for Label-Free Detection of Pathogen DNA
Next Article in Special Issue
Association between the NF-E2 Related Factor 2 Gene Polymorphism and Oxidative Stress, Anti-Oxidative Status, and Newly-Diagnosed Type 2 Diabetes Mellitus in a Chinese Population
Previous Article in Journal
Human Gingival Integration-Free iPSCs; a Source for MSC-Like Cells
Previous Article in Special Issue
The rs2516839 Polymorphism of the USF1 Gene May Modulate Serum Triglyceride Levels in Response to Cigarette Smoking
Article Menu
Issue 6 (June) cover image

Export Article

Open AccessComment
Int. J. Mol. Sci. 2015, 16(6), 13649-13652; doi:10.3390/ijms160613649

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

Department of Psychiatry and Psychotherapy, Friedrich-Alexander-University Erlangen-Nuremberg, Schwabachanlage 6, 91054 Erlangen, Germany
*
Author to whom correspondence should be addressed.
Academic Editor: Emil Alexov
Received: 5 May 2015 / Revised: 4 June 2015 / Accepted: 8 June 2015 / Published: 15 June 2015
(This article belongs to the Collection Human Single Nucleotide Polymorphisms and Disease Diagnostics)
View Full-Text   |   Download PDF [800 KB, uploaded 15 June 2015]   |  

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). View Full-Text
Keywords: gene variant; missense mutation; Niemann-Pick disease; polymorphism; sphingomyelin phosphodiesterase gene variant; missense mutation; Niemann-Pick disease; polymorphism; sphingomyelin phosphodiesterase
Figures

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

SciFeed Share & Cite This Article

MDPI and ACS Style

Rhein, C.; Mühle, C.; Kornhuber, J.; Reichel, M. Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease. Int. J. Mol. Sci. 2015, 16, 13649-13652.

Show more citation formats Show less citations formats

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Int. J. Mol. Sci. EISSN 1422-0067 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top