[A study of Wilson's disease gene encoded products and gene mutations].
OBJECTIVE
To investigate the pathogenesis of Wilson's disease(WD).


METHODS
Hepatocytes were isolated from WD patients' bioptic hepatic samples and cultured in vitro; WD proteins, the gene putative encoded products, were detected by SDS-PAGE in conjunction with Western blotting in liver samples of three patients and two controls. Their genomic DNAs were analyzed by means of direct DNA sequencing of WD gene (ATP7B) on exon 8.


RESULTS
The WD proteins lanes from two WD patients were found to be much weaker than that from the control, from which one WD patient was proven as heterozygote of 778 position CGG-->CTG(Arg778Leu) and 770 position CTC-->CTG change of ATP7B.


CONCLUSIONS
WD is highly heterogeneous in clinical manifestations and inheritance pattern. Abnormally expressed putative WD proteins in WD patients might be the results of ATP7B mutations, and the study of ATP7B products would help to probe into the pathogenesis of WD.
Hou
G
G
Department of Neurology, Guangzhou First Municipal Hospital, Guangzhou Medical College, Guangzhou, Guangdong 510180 P. R. China. spring-hua@126.com
Liang
X
X
Chen
R
R
Yang
C
C
Huang
F
F
Yan
Z
Z
Xu
P
P
Wang
Y
Y
D000251:Adenosine Triphosphatases / Q000032:analysis* / Q000235:genetics / Q000302:isolation & purification; D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000032:analysis* / Q000235:genetics / Q000302:isolation & purification; D027682:Cation Transport Proteins; D000073840:Copper-Transporting ATPases; D004247:DNA / Q000737:chemistry; D005260:Female; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation
D002352:Carrier Proteins; D027682:Cation Transport Proteins; D004247:DNA; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases