Werner Syndrome.

Lishan Chen,Junko Oshima

doi:10.1155/s1110724302201011

Abstract

Werner syndrome is a premature aging disease caused by the mutation in the WRN gene. The cloning and characterization of the WRN gene and its product allows investigators to study the disease and the human aging process at molecular level. This review summarizes the recent progresses on various aspects of the WRN research including functional analysis of the protein, interactive cloning, complexes formation, mouse models, and SNPs (single nucleotide polymorphisms). These in depth investigations have greatly advanced our understanding of the disease and elucidated future research direction for Werner syndrome and the human aging process.

Highlights

INTRODUCTIONWerner syndrome (WS) had been considered a model of accelerated aging
Until recently, Werner syndrome (WS) had been considered a model of accelerated aging
Following the initial biochemical characterization of the helicase and exonuclease activities of WRN protein (WRNp), the identification of WRN-interacting proteins has led to a variety of studies exploring various ways in which WRNp may be involved in DNA metabolism

Summary

INTRODUCTION

Werner syndrome (WS) had been considered a model of accelerated aging. WS is being more correctly recognized as a condition in which the lack of WRN protein (WRNp) results in an overall decline in the normal physiological functions of various organs, including those most frequently used to estimate the chronological age, such as skin and hair. The other most common age-related disorders seen in WS patients are bilateral cataracts and type II diabetes mellitus. The primary sites of osteosarcoma in WS patients are more likely to be in the lower extremities, whereas these are more common in the upper extremities in the general population [11]. This variation may be related to the threshold of WRNp required to maintain DNA stability in each cell type within a given organ.

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SUMMARY