In 1968 James Cleaver reported the first evidence of a link between a skin cancer-prone human syndrome, xeroderma pigmentosum, and a defect in DNA repair. This pivotal study paved the way for a large number of investigations that have clarified the importance of a functioning DNA repair system to the protection not only from skin cancer but also to the maintenance of neurologic, metabolic and immunologic health in the general population. The main focus of this chapter is to use the genetic disorders linked to DNA repair defects to unravel the correlation, often unexpected, between accumulation of different types of DNA damage and pathological endpoints. Moreover, we provide examples of how a better knowledge of DNA damage and repair mechanism may provide insights and opportunities for disease prevention and treatment.
DNA Repair in the development of human diseases and therapy
Pascucci B;
2020
Abstract
In 1968 James Cleaver reported the first evidence of a link between a skin cancer-prone human syndrome, xeroderma pigmentosum, and a defect in DNA repair. This pivotal study paved the way for a large number of investigations that have clarified the importance of a functioning DNA repair system to the protection not only from skin cancer but also to the maintenance of neurologic, metabolic and immunologic health in the general population. The main focus of this chapter is to use the genetic disorders linked to DNA repair defects to unravel the correlation, often unexpected, between accumulation of different types of DNA damage and pathological endpoints. Moreover, we provide examples of how a better knowledge of DNA damage and repair mechanism may provide insights and opportunities for disease prevention and treatment.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
