Premature aging in RecQ helicase-deficient human syndromes.
The RecQ family of DNA helicases have potential roles in DNA repair, replication and/or recombination pathways. In humans, a defect in the RecQ family helicases encoded by the BLM, WRN and RECQ4 genes gives rise to Bloom's (BS), Werner's (WS) and Rothmund-Thomson (RTS) syndromes, respectively. These disorders are associated with cancer predisposition and/or premature aging. In Bloom's syndrome, affected individuals are predisposed to many types of cancer at an early age. Werner's syndrome is a premature aging disorder with a complex phenotype, which includes many age-related disorders that develop from puberty, including greying and thinning of the hair, bilateral cataract formation, type II diabetes mellitus, osteoporosis and atherosclerosis. The phenotype of Rothmund-Thomson syndrome patients also consists of some features associated with premature aging, as well as predispositon to certain cancers. Here, we discuss the molecular basis of these RecQ helicase-deficient disorders.
Cancer Research UK Laboratories, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, OX3 9DS, Oxford, UK.
Payam
P
Mohaghegh
Ian D
ID
Hickson
D000251:Adenosine Triphosphatases / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D019588:Aging, Premature / Q000235:genetics* / Q000503:physiopathology; D000818:Animals; D004265:DNA Helicases / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D020409:Molecular Motor Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D053484:RecQ Helicases; D013577:Syndrome; D016615:Telomere / Q000378:metabolism
D020409:Molecular Motor Proteins; D000251:Adenosine Triphosphatases; C506725:RECQL protein, human; D004265:DNA Helicases; D053484:RecQ Helicases