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Fabry disease is an X-linked inborn error of glycosphingolipid
catabolism that results from mutations in
the gene encoding the α-galactosidase A (GLA)
enzyme. We have identified 15 distinct mutations in the
GLA gene in 13 unrelated patients with classic Fabry
disease and 2 unrelated patients with atypical Fabry
disease. Two of the identified mutations were novel
(i.e., the D231G missense mutation and the
L268delfsX1 deletion mutation). This study evaluated
the effects of the chemical chaperones 1-deoxygalactonojirimycin
(DGJ) on the function of GLA in vitro,
in cells containing missense mutations in the GLA
gene. Nine missense and a nonsense mutations, including
one novel mutation were cloned into mammalian
expression vectors. After transient expression in
COS-7 cells, GLA enzyme activity and protein expression
were analyzed using fluorescence spectrophotometry
and Western blot analysis, respectively.
DGJ enhanced GLA enzyme activity in the M42V,
I91T, R112C and F113L mutants. Interestingly, the I91T
and F113L mutations are associated with the atypical
form of Fabry disease. However, DGJ treatment did not
have any significant effect on the GLA enzyme activity and protein expression of other mutants, including
C142W, D231G, D266N, and S297F. Of note, GLA enzyme
activity was not detected in the novel mutant (i.e.,
D231G), although protein expression was similar to the
wild type. In the absence of DGJ, the E66Q mutant had
wild-type levels of GLA protein expression and approximately
40% GLA activity, indicating that E66Q is either
a mild mutation or a functional single nucleotide polymorphism
(SNP). Thus, the results of this study suggest
that the chemical chaperone DGJ enhances GLA
enzyme activity and protein expression in milder mutations
associated with the atypical form of Fabry
disease.
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참고문헌 (25)
참고문헌 신청
Branton MH / / / Balow JE
Desnick RJ / 1973 / Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes / J Lab Clin
Desnick RJ / 2001 / α-galactosidase A deficiency:Fabry disease. In The Metabolic and Molecular Bases of Inherited Disease / McGraw-Hill : 3733 ~ 3774
Fan JQ / 1999 / Accelerated transport and maturation of lysosomal α-galactosidase A in fabry lymphoblast by an enzyme inhibitor / Nat Med 5 : 112 ~ 115
Fan JQ / 2003 / Cell-based screening of active-site specific chaperon for the treatment of Fabry disease / Methods in Enzymology 363 : 412 ~ 420
Desnick RJ / 1973 / Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes / J Lab Clin
Desnick RJ / 2001 / α-galactosidase A deficiency:Fabry disease. In The Metabolic and Molecular Bases of Inherited Disease / McGraw-Hill : 3733 ~ 3774
Fan JQ / 1999 / Accelerated transport and maturation of lysosomal α-galactosidase A in fabry lymphoblast by an enzyme inhibitor / Nat Med 5 : 112 ~ 115
Fan JQ / 2003 / Cell-based screening of active-site specific chaperon for the treatment of Fabry disease / Methods in Enzymology 363 : 412 ~ 420
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