A new T677C mutation of the aspartoacylase gene encodes for a protein with no enzymatic activity

Barbara Tavazzi, Valentina Di Pietro, Angela Maria Amorini, Bruno Giardina, Giuseppe Lazzarino

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

5 Citazioni (Scopus)

Abstract

OBJECTIVE: To verify the effect of and to date the unknown T677C mutation of the human N-acetylaspartoacylase (hASPA) gene on the function of the mutated enzyme. DESIGN AND METHODS: Wild type and I226T-mutated proteins were expressed and purified from a transformed Escherichia coli colony. Enzymatic activities were measured in the presence of varying substrate concentrations. RESULTS: Whilst kinetic parameters of wild type hASPA were in line with data in literature, I226T-mutated hASPA showed no enzymatic activity. CONCLUSION: Data indicated that this new mutation might be responsible in homozygosis for the phenotype corresponding to Canavan disease.
Lingua originaleEnglish
pagine (da-a)611-615
Numero di pagine5
RivistaClinical Biochemistry
Stato di pubblicazionePubblicato - 2008

Keywords

  • Aspartoacylase
  • Canavan desease
  • NAA

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