Unravelling repair
In everyday life our DNA is exposed to agents, either physical or chemical, that can damage DNA. Our bodies have DNA repair systems that locate the damaged DNA and fix it. Individuals with genetic disorders such as Xeroderma Pigmentosum (XP), Cockayne Syndrome and Trichothiodystrophy have defects in this repair mechanism. This can lead to some UV sensitivity, neurological abnormalities and poor development. In the case of XP there is also a predisposition to skin cancer and in other diseases premature ageing. By studying such individuals we can begin to understand the molecular and cellular mechanisms involved in DNA repair. Several approaches were used in the study. Data from patients with DNA repair deficiencies was collated and mice were generated with human genetic deficiencies. This allowed them to pin point which mutations led to particular diseases and their clinical manifestation. By understanding how DNA repair mechanism function we gain an insight into fundamental cell processes which indirectly affect the origin of inborn defects, carcinogenesis, genome stability and ageing.