Figure 1. Measurement of patient and deficient cell lines.
Untransformed fibroblasts cell lines cultured from patients with lipid metabolism disorders were analyzed by these dipsticks. Absorbance units were compared to neonatal skin fibroblast cells (1) as a control. Patient cell line (2) has TFP protein deficiency likely a result of mutations R61H (182G-A) and R247H (740G-A) in HADHB gene (TFP beta subunit). While cell lines (3) and (4) both have MCAD activity deficiency as a result of the prevalent MCAD mutation K304E, 985A-G) in the ACADM gene.

Cell lines patients deficient in lipid metabolism were analyzed. Note the mAbs units measured for the untransformed control fibroblasts are different from the transformed HepG2 liver cell lines shown above. Also, note a consistent decreased SCHAD level in these patients cell lines which may be a consequence of general lipid metabolism disruption in these patient cell lines.
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