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Related Experiment Videos

Three pyruvate kinase variants with increased affinity for PEP

G E Elder, T R Lappin, B E Lawson

    British Journal of Haematology
    |March 1, 1981
    PubMed
    Summary

    Three pyruvate kinase variants cause severe hemolytic anemia due to reduced activity. These variants exhibit altered kinetic properties and allosteric regulation, impacting enzyme function and disease severity.

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    Area of Science:

    • Biochemistry
    • Enzymology
    • Hematology

    Background:

    • Pyruvate kinase (PK) is a crucial enzyme in glycolysis.
    • Deficiency in PK activity leads to non-spherocytic hemolytic anemia (NSHA).

    Observation:

    • Three novel variants of pyruvate kinase (PK) were identified.
    • These variants exhibit significantly reduced enzymatic activity.
    • Associated clinical presentation is severe NSHA.

    Findings:

    • Variants show reduced affinity for phosphoenolpyruvate (PEP) and decreased Hill coefficients.
    • Altered allosteric regulation observed: reduced fructose-1,6-bisphosphate (FDP) activation and adenosine triphosphate (ATP) inhibition.
    • Increased utilization of guanosine diphosphate (GDP) and altered response to 2,3-diphosphoglycerate (2,3-DPG).

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  • Thermostability varies among variants; two show decreased stability, one is normal.
  • Mutant enzymes display distinct affinities for FDP.

    • Implications:

    • These findings provide insights into PK structure-function relationships.
    • Understanding these variants aids in diagnosing and potentially treating NSHA.
    • The study contributes to the allosteric enzyme kinetic and physicochemical models.