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- Title
Increased erythrocyte content of Ca2+ in patients with Tarui's disease.
- Authors
Waldenström, A.; Engström, I.; Ronquist, G.; Waldenström, A; Engström, I
- Abstract
<bold>Objectives: </bold>To establish by flow cytometry and fluorophores an increased calcium ion load in erythrocytes of four patients with Tarui's disease.<bold>Design: </bold>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.<bold>Setting: </bold>The experiments were carried out at the Department of Clinical Chemistry of the University Hospital of Uppsala, Sweden.<bold>Subjects: </bold>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.<bold>Interventions: </bold>None.<bold>Main Outcome Measures: </bold>Calcium ion homeostasis was measured under basic conditions and under energy-deprived conditions and related to cellular adenylate content.<bold>Results: </bold>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.<bold>Conclusions: </bold>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.
- Subjects
CALCIUM ions; ERYTHROCYTES; FAMILIAL diseases
- Publication
Journal of Internal Medicine, 2001, Vol 249, Issue 1, p97
- ISSN
0954-6820
- Publication type
journal article
- DOI
10.1046/j.1365-2796.2001.00779.x