RecQ Helicase - Clinical Significance

Clinical Significance

There are at least five human RecQ genes; and mutations in any of the three human RecQ genes are implicated in heritable human diseases: WRN gene in Werner syndrome (WS), BLM gene in Bloom syndrome (BS), and RECQ4 in Rothmund-Thomson syndrome. These syndromes are characterized by premature ageing, graying and loss of hair, cancer, type II diabetes, osteoporosis, and atherosclerosis, all of which are diseases that are common at old age. These diseases are associated with high incidence of chromosomal abnormalities, including chromosome breaks, complex rearrangements, deletions and translocations, site specific mutations, and in particular sister chromatid exchanges (more common in BS) that are believed to be caused by a high level of somatic recombination.