Currently Clinical Views on Genetics of Wilson′s Disease
Objective: The objective of this study was to review the research on clinical genetics of Wilson′s disease (WD). Data Sources: We searched documents from PubMed and Wanfang databases both in English and Chinese up to 2014 using the keywords WD in combination with genetic, ATP7B gene, gene mutation,...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer
2015-01-01
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| Series: | Chinese Medical Journal |
| Subjects: | |
| Online Access: | http://www.cmj.org/article.asp?issn=0366-6999;year=2015;volume=128;issue=13;spage=1826;epage=1830;aulast=Chen |
| _version_ | 1811286078804459520 |
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| author | Chen Chen Bo Shen Jia-Jia Xiao Rong Wu Sarah Jane Duff Canning Xiao-Ping Wang |
| author_facet | Chen Chen Bo Shen Jia-Jia Xiao Rong Wu Sarah Jane Duff Canning Xiao-Ping Wang |
| author_sort | Chen Chen |
| collection | DOAJ |
| description | Objective: The objective of this study was to review the research on clinical genetics of Wilson′s disease (WD).
Data Sources: We searched documents from PubMed and Wanfang databases both in English and Chinese up to 2014 using the keywords WD in combination with genetic, ATP7B gene, gene mutation, genotype, phenotype.
Study Selection: Publications about the ATP7B gene and protein function associated with clinical features were selected.
Results: Wilson′s disease, also named hepatolenticular degeneration, is an autosomal recessive genetic disorder characterized by abnormal copper metabolism caused by mutations to the copper-transporting gene ATP7B. Decreased biliary copper excretion and reduced incorporation of copper into apoceruloplasmin caused by defunctionalization of ATP7B protein lead to accumulation of copper in many tissues and organs, including liver, brain, and cornea, finally resulting in liver disease and extrapyramidal symptoms. It is the most common genetic neurological disorder in the onset of adolescents, second to muscular dystrophy in China. Early diagnosis and medical therapy are of great significance for improving the prognosis of WD patients. However, diagnosis of this disease is usually difficult because of its complicated phenotypes. In the last 10 years, an increasing number of clinical studies have used molecular genetics techniques. Improved diagnosis and prediction of the progression of this disease at the molecular level will aid in the development of more individualized and effective interventions, which is a key to transition from molecular genetic research to the clinical study.
Conclusions: Clinical genetics studies are necessary to understand the mechanism underlying WD at the molecular level from the genotype to the phenotype. Clinical genetics research benefits newly emerging medical treatments including stem cell transplantation and gene therapy for WD patients. |
| first_indexed | 2024-04-13T02:54:13Z |
| format | Article |
| id | doaj.art-b5e63be8455b47b698f8456652c23b0b |
| institution | Directory Open Access Journal |
| issn | 0366-6999 |
| language | English |
| last_indexed | 2024-04-13T02:54:13Z |
| publishDate | 2015-01-01 |
| publisher | Wolters Kluwer |
| record_format | Article |
| series | Chinese Medical Journal |
| spelling | doaj.art-b5e63be8455b47b698f8456652c23b0b2022-12-22T03:05:44ZengWolters KluwerChinese Medical Journal0366-69992015-01-01128131826183010.4103/0366-6999.159361Currently Clinical Views on Genetics of Wilson′s DiseaseChen ChenBo ShenJia-Jia XiaoRong WuSarah Jane Duff CanningXiao-Ping WangObjective: The objective of this study was to review the research on clinical genetics of Wilson′s disease (WD). Data Sources: We searched documents from PubMed and Wanfang databases both in English and Chinese up to 2014 using the keywords WD in combination with genetic, ATP7B gene, gene mutation, genotype, phenotype. Study Selection: Publications about the ATP7B gene and protein function associated with clinical features were selected. Results: Wilson′s disease, also named hepatolenticular degeneration, is an autosomal recessive genetic disorder characterized by abnormal copper metabolism caused by mutations to the copper-transporting gene ATP7B. Decreased biliary copper excretion and reduced incorporation of copper into apoceruloplasmin caused by defunctionalization of ATP7B protein lead to accumulation of copper in many tissues and organs, including liver, brain, and cornea, finally resulting in liver disease and extrapyramidal symptoms. It is the most common genetic neurological disorder in the onset of adolescents, second to muscular dystrophy in China. Early diagnosis and medical therapy are of great significance for improving the prognosis of WD patients. However, diagnosis of this disease is usually difficult because of its complicated phenotypes. In the last 10 years, an increasing number of clinical studies have used molecular genetics techniques. Improved diagnosis and prediction of the progression of this disease at the molecular level will aid in the development of more individualized and effective interventions, which is a key to transition from molecular genetic research to the clinical study. Conclusions: Clinical genetics studies are necessary to understand the mechanism underlying WD at the molecular level from the genotype to the phenotype. Clinical genetics research benefits newly emerging medical treatments including stem cell transplantation and gene therapy for WD patients.http://www.cmj.org/article.asp?issn=0366-6999;year=2015;volume=128;issue=13;spage=1826;epage=1830;aulast=ChenATP7B Gene; Clinic; Gene Mutation; Genetic; Hepatolenticular Degeneration; Phenotype; Wilson′s Disease |
| spellingShingle | Chen Chen Bo Shen Jia-Jia Xiao Rong Wu Sarah Jane Duff Canning Xiao-Ping Wang Currently Clinical Views on Genetics of Wilson′s Disease Chinese Medical Journal ATP7B Gene; Clinic; Gene Mutation; Genetic; Hepatolenticular Degeneration; Phenotype; Wilson′s Disease |
| title | Currently Clinical Views on Genetics of Wilson′s Disease |
| title_full | Currently Clinical Views on Genetics of Wilson′s Disease |
| title_fullStr | Currently Clinical Views on Genetics of Wilson′s Disease |
| title_full_unstemmed | Currently Clinical Views on Genetics of Wilson′s Disease |
| title_short | Currently Clinical Views on Genetics of Wilson′s Disease |
| title_sort | currently clinical views on genetics of wilson s disease |
| topic | ATP7B Gene; Clinic; Gene Mutation; Genetic; Hepatolenticular Degeneration; Phenotype; Wilson′s Disease |
| url | http://www.cmj.org/article.asp?issn=0366-6999;year=2015;volume=128;issue=13;spage=1826;epage=1830;aulast=Chen |
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