Red blood cell ghosts are affected by adrenoleucodystrophy.
X-linked adrenoleucodystrophy is a disorder occurring in different clinical forms, characterized by adrenal, gonadal and nervous system dysfunction. The basis of the illness is a derangement of the peroxisomal system necessary to oxidize very long-chain fatty acids that accumulate in various tissues. The diagnosis relies on clinical signs and symptoms and on biochemical findings. The six reported cases presented idiopathic adrenal insufficiency. We measured the lipid composition of red blood cell (RBC) ghosts of patients and control subjects. The distribution of phosphorus among phospholipid classes was unaffected; we could not demonstrate any differences between the fatty acid patterns of RBC membrane, either in total lipid extracts or in separated lipid classes. However, we found an increase in total lipid (both phospholipid and cholesterol), in membrane viscosity and in the Na+/K(+)-dependent ATPase. Therefore, we report four main findings on ghosts in adrenoleucodystrophy patients: (a) very long-chain fatty acids do not accumulate; (b) the lipid-protein ratio increases; (c) fluidity decreases; and (d) the activity of ATPase increases. The last finding is proposed as a possible biochemical marker of the illness. We conclude that adrenoleucodystrophy affects deeply RBC membranes.
Arienti
G
G
Istituto di Biochimica Chimica Medical, University of Perugia, Italy.
Carlini
E
E
Laureti
S
S
Brunetti
P
P
Santeusanio
F
F
D000326:Adrenoleukodystrophy / Q000097:blood*; D000328:Adult; D004910:Erythrocyte Membrane / Q000737:chemistry*; D006801:Humans; D008560:Membrane Fluidity; D008563:Membrane Lipids / Q000032:analysis; D008875:Middle Aged; D000254:Sodium-Potassium-Exchanging ATPase / Q000032:analysis; D014960:X Chromosome
D008563:Membrane Lipids; D000254:Sodium-Potassium-Exchanging ATPase