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Red-cell transport defect in patients with cystic fibrosis and in their parents

J W Balfe, C Cole, L G Welt

    Science (New York, N.Y.)
    |November 8, 1968
    PubMed

    Insights

    Cystic fibrosis patients show decreased sodium efflux from red blood cells. This sodium transport defect may help identify carriers of the disease.

    Area of Science:

    • Biochemistry
    • Genetics
    • Cell Biology

    Background:

    • Cystic fibrosis (CF) is a genetic disorder affecting multiple organs.
    • Sodium transport is crucial for maintaining cellular homeostasis.
    • Erythrocytes (red blood cells) are accessible models for studying cellular transport defects.

    Purpose of the Study:

    • To investigate sodium efflux abnormalities in erythrocytes of cystic fibrosis patients.
    • To determine if these abnormalities can identify heterozygous carriers.

    Main Methods:

    • Measuring ouabain-sensitive and ethacrynic acid-sensitive sodium efflux from erythrocytes.
    • Assessing ouabain-sensitive adenosine triphosphatase activity in red blood cell ghosts.

    Main Results:

    • Erythrocytes from cystic fibrosis patients exhibited decreased ouabain-sensitive and ethacrynic acid-sensitive sodium efflux.
    • Ouabain-sensitive adenosine triphosphatase activity was diminished in CF patients' red blood cell ghosts.
    • Significantly, ethacrynic acid-sensitive sodium efflux was also reduced in erythrocytes of asymptomatic parents (carriers).

    Conclusions:

    • A defect in sodium transport is present in cystic fibrosis erythrocytes.
    • Reduced ethacrynic acid-sensitive sodium efflux in erythrocytes may serve as a valuable marker for detecting the heterozygous carrier state of cystic fibrosis.

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