Figure 1
From: 2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase
Lymphocyte FA2H patient transcript and total FA-SM/OH-SM profiles. A, Lane C shows the transcript obtained in control lymphocytes using the FA2H primer and lane P shows the shorter transcript obtained in patient lymphocytes. B, Total level of FA-SM in control and patient fibroblasts, lymphocytes and erythrocytes was quantitated by HPLC/MS-MS. C, Total level of OHFA-SM in control and patient fibroblasts, lymphocytes and erythrocytes was quantitated by HPLC/MS-MS. D, The ratio of the total OHFA-SM content divided by the total FA-SM content was calculated (mean of 2 experiments +/- SD).