Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance

Gabriella Esposito, Luigi Vitagliano, Rita Santamaria, Antonietta Viola, Adriana Zagari, Francesco Salvatore

Research output: Contribution to journalArticlepeer-review


Hereditary fructose intolerance (HFI) is a recessively inherited disorder of carbohydrate metabolism caused by impaired function of human liver aldolase (B isoform). 25 enzyme-impairing mutations have been identified in the aldolase B gene. We have studied the HFI-related mutant recombinant proteins W147R, A149P, A174D, L256P, N334K and Δ6ex6 in relation to aldolase B function and structure using kinetic assays and molecular graphics analysis. We found that these mutations affect aldolase B function by decreasing substrate affinity, maximal velocity and/or enzyme stability. Finally, the functional and structural analyses of the non-natural mutant Q354E provide insight into the catalytic role of Arg303, whose natural mutants are associated to HFI.

Original languageEnglish
Pages (from-to)152-156
Number of pages5
JournalFEBS Letters
Issue number2
Publication statusPublished - Nov 6 2002


  • Aldolase B
  • Hereditary fructose intolerance
  • Homology-modeling technique
  • Kinetic analysis
  • Protein expression
  • Site-directed mutagenesis

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology


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