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

International Journal of Molecular Sciences

Cosima Rhein²  Christiane Mühle²  Johannes Kornhuber²  Martin Reichel¹ 

[1] Department of Psychiatry and Psychotherapy, Friedrich-Alexander-University Erlangen-Nuremberg, Schwabachanlage 6, 91054 Erlangen, Germany;

关键词: gene variant;    missense mutation;    Niemann-Pick disease;    polymorphism;    sphingomyelin phosphodiesterase;   

DOI  :  10.3390/ijms160613649

来源: mdpi

【 摘 要 】

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).

【 授权许可】

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© 2015 by the authors; licensee MDPI, Basel, Switzerland.