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Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases.
Mol Divers. 2008 May; 12(2):119-29.MD

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.

Authors+Show Affiliations

Guangxi Academy of Sciences, 98 Daling Road, Nanning, Guangxi, 530007, China.No affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18688737

Citation

Yan, Shaomin, and Guang Wu. "Quantitative Relationship Between Mutated Amino-acid Sequence of Human Copper-transporting ATPases and Their Related Diseases." Molecular Diversity, vol. 12, no. 2, 2008, pp. 119-29.
Yan S, Wu G. Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases. Mol Divers. 2008;12(2):119-29.
Yan, S., & Wu, G. (2008). Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases. Molecular Diversity, 12(2), 119-29. https://doi.org/10.1007/s11030-008-9084-x
Yan S, Wu G. Quantitative Relationship Between Mutated Amino-acid Sequence of Human Copper-transporting ATPases and Their Related Diseases. Mol Divers. 2008;12(2):119-29. PubMed PMID: 18688737.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases. AU - Yan,Shaomin, AU - Wu,Guang, Y1 - 2008/08/08/ PY - 2008/01/29/received PY - 2008/07/19/accepted PY - 2008/8/9/pubmed PY - 2009/2/24/medline PY - 2008/8/9/entrez SP - 119 EP - 29 JF - Molecular diversity JO - Mol Divers VL - 12 IS - 2 N2 - 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. SN - 1381-1991 UR - https://www.unboundmedicine.com/medline/citation/18688737/Quantitative_relationship_between_mutated_amino_acid_sequence_of_human_copper_transporting_ATPases_and_their_related_diseases_ L2 - https://doi.org/10.1007/s11030-008-9084-x DB - PRIME DP - Unbound Medicine ER -