What can we learn from Werner syndrome? A biased view from a rheumatologist

Abstract

Werner syndrome (WS), caused by the mutation of the RecQ3 DNA helicase gene (loss of function), manifests scleroderma-like skin changes and juvenile cataracts in addition to a variety of clinical and biochemical aging phenotypes at an early stage of life, followed by death at an average age of 46 years. WS has been nominated as a top-ranking premature aging syndrome, or a human model of accelerated aging. Analyses of clinical and biological deterioration of body systems observed in WS may shed a unique light on the role of gene(s) in the pathogenesis of systemic sclerosis (SSc) and normal human aging.

Key words::

• Autoantibody
• Genetic instability
• Helicase
• Systemic sclerosis (SSc)
• Werner syndrome (WS)