Compared with control lines, fibroblasts of the intermediately affected group were found to have about 40% reduced levels of PlsEtn, while those derived from patients with severe phenotype displayed a more pronounced reduction of more than 70% representing a highly significant linear trend between the three examined groups ( P < 0.001).
This observation is underlined by two findings: (i) residual PlsEtn in RCDP fibroblasts showed a trend toward increased proportions of AA at its sn -2 position; and (ii) in comparison to control fibroblasts or wild type brains, AA-containing PE species were strongly elevated in RCDP fibroblasts as well as in gray matter from Gnpat knockout brains, while DHA-containing PE largely remained the same.