Abstract:
:Fucosidosis is a rare lysosomal storage disease caused by a defect of the alpha-L: -fucosidase (FUCA1) gene. Worldwide 26 mutations underlying the disease have been reported. By direct DNA sequencing of exons and flanking introns, homozygous Y126X mutation and Q281R polymorphism were found in a Taiwanese patient with fucosidosis. Upon expressing in COS-7 cells, 97.4% of alpha-L: -fucosidase activity compared with that of the wild-type construct was observed in the cDNA containing Q281R polymorphism. Western blot analysis revealed a 58-kDa precursor and 56-kDa mature forms for cells transfected with wild-type and Q281R enzymes. Using the fluorogenic substrate, the Michaelis constants and maximal velocities of both enzymes were very similar. While no appreciable enzyme activity (0.0%) was observed with Y126X mutation, no apparent decrease in FUCA1 mRNA level was seen with Y126X mutation. The expressed truncated Y126X protein was unstable and largely degraded. The delineation of the molecular defect could serve to complement future prenatal diagnosis for this family when necessary.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Lin SP,Chang JH,de la Cadena MP,Chang TF,Lee-Chen GJdoi
10.1007/s10038-007-0136-3subject
Has Abstractpub_date
2007-01-01 00:00:00pages
553-556issue
6eissn
1434-5161issn
1435-232Xpii
10.1007/s10038-007-0136-3journal_volume
52pub_type
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