NA,K-ATPASE ACTIVITY IN RED-BLOOD-CELLS FROM PATIENTS WITH CHEDIAK-HIGASHI-SYNDROME

Na,K-ATPase activity of red blood cells from Chediak-Higashi syndrome (CHS) patients and relatives (gene heterozygous) was determined and co mpared to that of control, healthy, Individuals. The enzyme activity w as found to be strongly diminished in the CHS patients and slightly lo wer in their relatives. This reduced activity was due to a lower turno ver number of the Na,K-ATPase as well as a decreased number of pumps. The reduced enzyme activity observed in these patients could be the re sult of an abnormal cell membrane fluidity, and the lowered number of Na,K-pumps could be explained as a consequence of an altered or defici ent cell machinery caused by the CHS gene. (C) 1995 Academic Press, In c.