Functional deficit associated with a missense Werner syndrome mutation.

[werner syndrome]

Werner syndrome (WS ) is a rare autosomal recessive disorder caused by mutations in the WRN gene . WRN helicase , a member of the RecQ helicase family , is involved in various DNA metabolic pathways including DNA replication , recombination , DNA repair and telomere maintenance . In this study , we have characterized the G 574 R missense mutation , which was recently identified in a WS patient . Our biochemical experiments with purified mutant recombinant WRN protein showed that the G 574 R mutation inhibits ATP binding , and thereby leads to significant decrease in helicase activity . Exonuclease activity of the mutant protein was not significantly affected , whereas its single strand DNA annealing activity was higher than that of wild type . Deficiency in the helicase activity of the mutant may cause defects in replication and other DNA metabolic processes , which in turn could be responsible for the Werner syndrome phenotype in the patient . In contrast to the usual appearance of WS , the G 574 R patient has normal stature . Thus the short stature normally associated with WS may not be due to helicase deficiency .

Diseases
Validation

Diseases presenting "mutations in the wrn gene" symptom

werner syndrome

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