Currently Clinical Views on Genetics of Wilson's Disease

• Published in: Chinese medical journal Vol. 128; no. 13; pp. 1826 - 1830
• Main Authors: Chen, Chen, Shen, Bo, Xiao, Jia-Jia, Wu, Rong, Duff Canning, Sarah Jane, Wang, Xiao-Ping
• Format: Journal Article
• Language: English
• Published: China Medknow Publications and Media Pvt. Ltd 05-07-2015; Lippincott Williams & Wilkins Ovid Technologies; Department of Neurology, Shanghai General Hospital, Shanghai Jiao-Tong University, Shanghai 200080, China; Medknow Publications & Media Pvt Ltd
• Subjects: Adenosine Triphosphatases - genetics; Analysis; Apolipoproteins; Care and treatment; Cation Transport Proteins - genetics; Chinese medicine; Copper-transporting ATPases; Diagnosis; Disease; Gene therapy; Genetics; Health aspects; Hepatolenticular Degeneration - genetics; Hospitals; Humans; Medical genetics; Metabolism; Mutation; Neurology; Phenotype; Phosphorylation; Physiological aspects; Population; Proteins; Review; Stem cell transplantation; Wilson's disease; China; Clinic; Phenotype; Wilson's Disease; Gene Mutation; Genetic; ATP7B Gene; Hepatolenticular Degeneration
• ISSN: 0366-6999; 2542-5641
• DOI: 10.4103/0366-6999.159361

The objective of this study was to review the research on clinical genetics of Wilson's disease (WD).
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.
Publications about the ATP7B gene and protein function associated with clinical features were selected.
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.
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.