Analysis of the human Atox 1 homologue in Wilson patients.
OBJECTIVE
To analyze the metallochaperone antioxidant-1 (Atox1) gene sequence in Wilson disease patients.


METHODS
Mutation analysis of the four exons of the Atox1 gene including the intron- exon boundaries was performed in 63 Wilson disease patients by direct sequencing.


RESULTS
From 63 selected patients no mutations were identified after the entire coding region including the intron- exon boundaries of Atox1 were sequenced. One known polymorphism within the Atox1 gene (5'UTR -99 T>C) in 31 (49%) of the Wilson patients as well as one previously undescribed variation (5'UTR -68 C>T) in 2 of the Wilson patients could be detected. Statistical analyses revealed that the existence of a variation within the Atox1- gene showed a tendency towards an earlier onset of the disease.


CONCLUSIONS
Based on the data of this study, no major role can be attributed to Atox1 in the pathophysiology or clinical variation of Wilson disease.
Simon
Isabel
I
Department of Gastroenterology, University of Heidelberg, INF 410, D-69120 Heidelberg, Germany.
Schaefer
Mark
M
Reichert
Jürgen
J
Stremmel
Wolfgang
W
D020121:5' Untranslated Regions; D000328:Adult; D027682:Cation Transport Proteins / Q000235:genetics*; D000079922:Copper Transport Proteins; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008297:Male; D056511:Metallochaperones; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic
D020121:5' Untranslated Regions; C474500:ATOX1 protein, human; D027682:Cation Transport Proteins; D000079922:Copper Transport Proteins; D056511:Metallochaperones; D018832:Molecular Chaperones