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Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease

AUTHORS

Narges Zali 1 , Seyed Reza Mohebbi 1 , Sahar Esteghamat 1 , Mohsen Chiani 1 , Mahdi Montazer Haghighi 2 , * , Seyed Mohammad-Kazem Hosseini-Asl 1 , Faramarz Derakhshan 1 , Amir-Houshang Mohammad-Alizadeh 1 , Seyed-Ali Malek-Hosseini 1 , Mohammad Reza Zali 1

1 Research Centre for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, IR Iran

2 Research Centre for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, [email protected], IR Iran

How to Cite: Zali N, Mohebbi S, Esteghamat S, Chiani M, Haghighi M, et al. Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease, Hepat Mon. Online ahead of Print ; 11(11):890-894. doi: 10.5812/kowsar.1735143X.762.

ARTICLE INFORMATION

Hepatitis Monthly: 11 (11); 890-894
Article Type: Research Article
Received: June 26, 2011
Accepted: August 25, 2011
DOI : 10.5812/kowsar.1735143X.762
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Abstract

Background: Wilson disease (WD) is an autosomal recessive disorder. The WD gene, ATP7B, encodes a copper-transporting ATPase involved in the transport of copper into the plasma protein ceruloplasmin and in excretion of copper from the liver. ATP7B mutations cause copper to accumulate in the liver and brain.
Objectives: We examined the ATP7B mutation spectrum in Wilson disease patients in Iran.
Patients and Methods: Genomic DNA was extracted from patients with Wilson disease. The entire coding region of the ATP7B gene was amplified using PCR and analyzed using direct sequencing.
Results: We identified five novel mutations in 5 Iranian patients with Wilson disease. The first was a transversion, c.2363C > T, which led to an amino acid change from threonine to isoleucine. The second mutation was a deletion, c.2532delA (Val845Ser), which occurred in exon 10. The third mutation was a transition mutation, c.2311C > G (Leu770Leu), which occurred in the TM4 domain of the ATP7B protein. The fourth mutation was a transversion, (c.3061G > A) (Lys1020Lys), in exon 14. Lastly, we identified a transversion, c.3206C > A (His1069Asn) in exon 14 which led to a change in function of the ATP loop domain of the ATP7B protein. The H1069Q mutation was identified as the most common mutation in our study population.
Conclusions: Based on our findings, the H1069Q may be a biomarker that can be used in a rapid detection assay for diagnosing WD patients.

 

 

Implication for health policy/practice/research/medical education:

Although a variety of mutations have been identified in the ATP7 gene in Wilson disease patients around the world, there is not enough data about it in Iranian patients. This study will provide valuable information about mutational hot spot regions of ATP7B gene in Iranian patients for the first time and may help researchers to develop specific diagnostic tests for our population. We highly recommend biologists and Gastroenterologists to study this article.

Please cite this paper as:
Zali N, Mohebbi SR, Esteghamat S, Chiani M, Montazer Haghighi M, Hosseini-Asl SM, et al. Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease. Hepat Mon. 2011;11(11):890-4. DOI: 10.5812/kowsar.1735143X.762

Keywords

Wilson Disease Protein Mutation ATP7B Protein

© 0, Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.

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