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D266Y - a new alpha galactosidase A gene mutation detected in a Hungarian family with Fabry disease - Experimental and theoretical investigation

Fabry disease is an X-linked recessive hereditary disorder due to a defect of a lysosomal hydrolase alpha-galactosidase A (EC.3.2.1.22). There is high degree molecular heterogenity of alpha-galactosidase A gene (GLA) deficiency. In this paper we report the mutation of the alpha-galactosidase A gene detected in a Hungarian Fabry patient. Mutation analysis was performed by polymerase chain reaction (PCR) sequencing of the seven exons and adjacent introns of the alpha-galactosidase A gene. The alteration of the active site was investigated in wild type (WT) and mutant (MT) enzymes by comparative molecular docking procedures. The newly described D266Y missense mutation has been identified in exon 5, causing a substitution of the aspartic acid at codon 266 by a tyrosine residue due to a G-T transversion at position 10287 of the alpha GAL- A gene. The theoretical calculations revealed some steric inhibition; the binding free energy increased (lowering the stability) significantly in MT form with respect to WT enzyme.