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Increased erythrocyte content of Ca2+ in patients with Tarui's disease
A Waldenström1, I Engström, G Ronquist
1Department of Internal Medicine, Norrlands University Hospital, S-901 85 Umeå, Sweden.
Objectives:
To establish by flow cytometry and fluorophores an increased calcium ion load in erythrocytes of four patients with Tarui's disease.
Design:
Calcium ion levels were determined in erythrocytes of patients and controls under normal and energy-deprived conditions. Adenylates were measured to assess energy status of incubated erythrocytes.
Setting:
The experiments were carried out at the Department of Clinical Chemistry of the University Hospital of Uppsala, Sweden.
Subjects:
Four family members with Tarui's disease participated in the study. The proband (patient 1) was a 39-year-old male; patients (male, aged 46 years) 2 and 3 (female, 30 years) were his two siblings. Patient 4 (male, 16 years) was the son of patient 2.
Interventions:
None.
Main Outcome Measures:
Calcium ion homeostasis was measured under basic conditions and under energy-deprived conditions and related to cellular adenylate content.
Results:
All patients showed enhanced erythrocyte calcium ion loading compared to controls under energy-deprived conditions. Under normal conditions, however, three out of the four patients showed an increased erythrocyte calcium ion level compared to controls.
Conclusions:
We conclude that erythrocytes from patients with Tarui's disease have an increased Ca2+ permeability, initiating compensatory mechanisms involving increased Ca2+ pump activity and increased glycolytic flux, which are not always sufficient to keep erythrocyte calcium ion concentration within physiological range.