FEBS Lett. 2002 Nov 6;531(2):152-6.

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

Esposito G, Vitagliano L, Santamaria R, Viola A, Zagari A, Salvatore F.

Source

Dipartimento di Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, Università di Napoli Federico II, Napoli, Italy.

Abstract

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 delta6ex6 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 Arg(303), whose natural mutants are associated to HFI.

PMID:: 12417303; [PubMed - indexed for MEDLINE]

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Cited by 3 PubMed Central articles

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