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2015 ; 128
(13
): 1826-30
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Currently Clinical Views on Genetics of Wilson s Disease
#MMPMID26112727
Chen C
; Shen B
; Xiao JJ
; Wu R
; Duff Canning SJ
; Wang XP
Chin Med J (Engl)
2015[Jul]; 128
(13
): 1826-30
PMID26112727
show ga
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.
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