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Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases

Content Provider	Springer Nature Link
Author	Yan, Shaomin Wu, Guang
Copyright Year	2008
Abstract	Copper-transporting ATPase 1 and 2 (ATP7A and ATP7B) are two highly homologous P-type copper ATPase exporters. Mutations in ATP7A can lead to Menkes disease which is an X-linked disorder of copper deficiency. Mutations in ATP7B can cause Wilson disease which is an autosomal recessive disorder of copper toxicity. In this study, we attempt to build a quantitative relationship between mutated ATPase and Menkes/Wilson disease. First, we use the amino-acid distribution probability as a measure to quantify the difference in ATPase before and after mutation. Second, we use the cross-impact analysis to define the quantitative relationship between mutant ATPase protein and Menkes/Wilson disease, and compute various probabilities. Finally, we use the Bayesian equation to determine the probability that Menkes/Wilson disease is diagnosed under a mutation. The results show (i) the vast majority of mutations lead to the amino-acid distribution probability increase in mutant ATP7As and decrease in ATP7Bs, and (ii) the probability that a mutation causes Menkes/Wilson disease is about nine tenth. Thus we provide a way to use the descriptively probabilistic method to couple the mutation with its clinical outcome after quantifying mutations in proteins.
Starting Page	119
Ending Page	129
Page Count	11
File Format	PDF
ISSN	13811991
Journal	Molecular Diversity
Volume Number	12
Issue Number	2
e-ISSN	1573501X
Language	English
Publisher	Springer Netherlands
Publisher Date	2008-08-08
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Amino acid ATP7A ATP7B Bayes’ law Computational Cross-impact analysis Distribution probability Menkes disease Prediction Wilson disease Pharmacy Polymer Sciences Organic Chemistry Biochemistry
Content Type	Text
Resource Type	Article
Subject	Organic Chemistry Medicine Drug Discovery Molecular Biology Physical and Theoretical Chemistry Information Systems Catalysis Inorganic Chemistry

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