Werner Syndrome - Genetics

Genetics

Werner syndrome is an autosomal recessive disorder. The WRN gene associated with Werner Syndrome lies on chromosome 8 in humans and it is the only gene known to be associated with Werner syndrome. The disease is caused by a mutation in the WRN gene, (or RECQL2) which codes a DNA helicase that functions 3' 5' as well as base exertion properties that also function in the same direction. Increased telomere attrition and genomic instability have been observed in Werner syndrome, and rapid telomere decay is thought to play a causal role in the clinical and pathological manifestations of the disease. The process by which the mutant WRN gene promotes telomere instability is unknown.