[Werner syndrome].
WS has been associated with an excess of cancer of unusual types, especially sarcomas. Thyroid carcinoma, the most frequent epithelial cancer in WS, accounted for 14% of neoplasia in Japanese with WS. The ratio of epithelial to non-epithelial cancer was 1:1, as compared with 10:1 in the general adult population. Genotype/phenotype correlations may be due to a mutation that induces a site-specific cancer or host-susceptibility factors, either genetic or environmental. Recently, we and others have identified WS gene(WRN) as chromosome 8p12-located RecQ type DNA/RNA helicase. The wild type WRN protein has the conventional RecQ type DNA helicase activity to unwind DNA/RNA helix. The precise functional study of the helicase may help the analysis of "Why and how we age and have cancer?" question in the near future.
Dept. of Rheumatology, Tokyo Metropolitan Otsuka Hospital.
M
M
Goto
Y
Y
Ishikawa
D000328:Adult; D000375:Aging; D002898:Chromosomes, Human, Pair 8; D004265:DNA Helicases / Q000235:genetics; D005090:Exodeoxyribonucleases; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009378:Neoplasms, Multiple Primary; D020365:RNA Helicases / Q000235:genetics; D053484:RecQ Helicases; D014898:Werner Syndrome / Q000235:genetics / Q000503:physiopathology; D000071657:Werner Syndrome Helicase
D005090:Exodeoxyribonucleases; D004265:DNA Helicases; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase; D020365:RNA Helicases