Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol |
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| Authors: | Zari Dastani Isabelle L Ruel James C Engert Jr" target="_blank">Jacques GenestJr Michel Marcil |
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| Institution: | 1.From the Cardiovascular Research Laboratories, Division of Cardiology,McGill University Health Centre/Royal Victoria Hospital,Montréal,Canada |
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| Abstract: | Background Niemann-Pick disease type A and B is caused by a deficiency of acid sphingomyelinase due to mutations in the sphingomyelin
phosphodiesterase-1 (SMPD1) gene. In Niemann-Pick patients, SMPD1 gene defects are reported to be associated with a severe reduction in plasma high-density lipoprotein (HDL) cholesterol. |
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