AI Article Synopsis
- Short-chain C6-sphingomyelin was used in a study to assess acid sphingomyelinase activity in patients with Niemann-Pick disease types A and B.
- Two sisters with Niemann-Pick B showed normal enzyme activity in initial tests due to their specific genetic mutations (p.C92W and p.P184L) in the SMPD1 gene, leading to false negative results.
- Adjusting the assay by increasing sodium taurocholate detergent concentration revealed lower enzyme activity levels in these sisters, aligning their results with those of other affected patients and differentiating them from healthy controls.
Article Abstract
Short-chain C6-sphingomyelin is an artificial substrate that was used in an acid sphingomyelinase activity assay for a pilot screening study of patients with Niemann-Pick disease types A and B. Using previously published multiplex and single assay conditions, normal acid sphingomyelinase activity levels (i.e. false negative results) were observed in two sisters with Niemann-Pick B who were compound heterozygotes for two missense mutations, p.C92W and p.P184L, in the SMPD1 gene. Increasing the sodium taurocholate detergent concentration in the assay buffer lowered the activity levels of these two patients into the range observed with other patients with clear separation from normal controls.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750609 | PMC |
| http://dx.doi.org/10.1016/j.ymgmr.2015.04.001 | DOI Listing |
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