Xeroderma Pigmentosum: defective DNA repair causes skin cancer and neurodegeneration

Journal Article · Fri Jul 15 04:00:00 EDT 1988 · JAMA, J. Am. Med. Assoc.; (United States)

DOI:https://doi.org/10.1001/jama.260.3.384· OSTI ID:6460570

Robbins, J H

Xeroderma pigmentosum is a rare autosomal recessive disease with numerous malignancies on sun-exposed areas of the skin and eye because of an inability to repair DNA damage inflicted by harmful ultraviolet (UV) radiation of the sun. Because it is the only disease in which cancer is known to result from defective DNA repair, XP has received intense clinical and biochemical study during the last two decades. Furthermore, some patients with XP develop a primary neuronal degeneration, probably due to the inability of nerve cells to repair damage to their DNA caused by intraneuronal metabolites and physicochemical events that mimic the effects of UV radiation. Studies of XP neurodegeneration and DNA-repair defects have led to the conclusion that efficient DNA repair is required to prevent premature death of human nerve cells. Since XP neurodegeneration has similarities to premature death of nerve cells that occurs in such neurodegenerative disorders, XP may be the prototype for these more common neurodegenerations. Recent studies indicate that these degenerations also may have DNA-repair defects.

• Research Organization: National Institutes of Health, Bethesda, MD (USA)
• OSTI ID: 6460570
• Journal Information: JAMA, J. Am. Med. Assoc.; (United States), Journal Name: JAMA, J. Am. Med. Assoc.; (United States) Vol. 260:3; ISSN JAMAA
• Country of Publication: United States
• Language: English

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560151* -- Radiation Effects on Animals-- Man
63 RADIATION, THERMAL, AND OTHER ENVIRON. POLLUTANT EFFECTS ON LIVING ORGS. AND BIOL. MAT.
ANIMAL CELLS
BIOLOGICAL EFFECTS
BIOLOGICAL RADIATION EFFECTS
BIOLOGICAL RECOVERY
BIOLOGICAL REPAIR
BODY
DISEASES
DNA REPAIR
ELECTROMAGNETIC RADIATION
EXTREME ULTRAVIOLET RADIATION
NERVOUS SYSTEM
ORGANS
PATHOGENESIS
PATIENTS
RADIATION EFFECTS
RADIATIONS
RECOVERY
REPAIR
SKIN
SKIN DISEASES
ULTRAVIOLET RADIATION
XERODERMA PIGMENTOSUM
XP CELLS