NDLI: Fabry disease: correlation between structural changes in α-galactosidase, and clinical and biochemical phenotypes

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Fabry disease: correlation between structural changes in α-galactosidase, and clinical and biochemical phenotypes

Content Provider	Springer Nature Link
Author	Matsuzawa, Fumiko Aikawa, Sei ichi Doi, Hirofumi Okumiya, Toshika Sakuraba, Hitoshi
Copyright Year	2005
Abstract	Fabry disease comprises classic and variant phenotypes. The former needs early enzyme replacement therapy, and galactose infusion is effective for some variant cases. Attempts of early diagnosis before manifestations appear will begin in the near future. However, it is difficult to predict the phenotype, to determine the therapeutic approach, only from genetic information. Thus we attempted structural analysis from a novel viewpoint. We built structural models of mutant α-galactosidases resulting from 161 missense mutations (147 classic and 14 variant), and evaluated the influence of each replacement on the structure by calculating the numbers of atoms affected. Among them, 11 mutants, biochemically characterized, were further investigated by color imaging of the influenced atoms. In the variant group, the number of atoms influenced by amino-acid replacement was small, especially in the main chain. In 85% of the cases, less than three atoms in the main chain are influenced. In this group, small structural changes, located apart from the active site, result in destabilization of the mutant enzymes, but galactose can stabilize them. Structural changes caused by classic Fabry mutations are generally large or are located in functionally important regions. In 82% of the cases, three atoms or more in the main chain are affected. The classic group comprises dysfunctional and unstable types, and galactose is not expected to stabilize the mutant enzymes. This study demonstrated the correlation of structural changes, and clinical and biochemical phenotypes. Structural investigation is useful for elucidating the bases of Fabry disease and clinical treatment.
Starting Page	317
Ending Page	328
Page Count	12
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	117
Issue Number	4
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2005-05-28
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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