Bloom's Syndrome: Why Not Premature Aging?: A comparison of the BLM and WRN helicases.

Bloom's Syndrome: Why Not Premature Aging?: A comparison of the BLM and WRN helicases. Ageing Res Rev. 2016 May 26; Authors: Renty C, Ellis NA Abstract Genomic instability is a hallmark of cancer and aging. Premature aging (progeroid) syndromes are often caused by mutations in genes whose function is to ensure genomic integrity. The RecQ family of DNA helicases is highly conserved and plays crucial roles as genome caretakers. In human, mutations in three RecQ genes - BLM, WRN, and RECQL4 - give rise to Bloom's syndrome (BS), Werner syndrome (WS), and Rothmund-Thomson's syndrome (RTS), respectively. WS is a prototypic premature aging disorder; however, the clinical features present in BS and RTS do not indicate accelerated aging. The BLM helicase has pivotal functions at the crossroads of DNA replication, recombination, and repair. BS cells exhibit a characteristic form of genomic instability that includes excessive recombination. The excessive homologous recombination drives the development of the many types of cancers that affect persons in the normal population. Replication delay and slower cell turnover rates have been proposed to explain many features of Bloom's syndrome, such as short stature. More recently, aberrant transcriptional regulation of growth and survival genes has been proposed as a hypothesis. PMID: 27238185 [PubMed - as supplied by publisher]
Source: Ageing Research Reviews - Category: Genetics & Stem Cells Authors: Tags: Ageing Res Rev Source Type: research