title: Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation.
abstract: Xeroderma pigmentosum is an autosomal recessive disease in which DNA repair processes are defective. All xeroderma pigmentosum patients develop premature aging of sun-exposed skin, and some develop neurological abnormalities due to premature death of nerve cells. Sensitivity to ultraviolet radiation of 24 xeroderma pigmentosum fibroblast strains was studied in vitro by measuring each strain's ability to divide and form colonies after irradiation. The most sensitive strains were derived from patients who had an early onset of neurological abnormalities; less sensitive strains were from patients with a later onset; and the most resistant strains were from patients without neurological abnormalities. The UV sensitivities of strains from each member of a sibling pair with xeroderma pigmentosum were identical, indicating that UV sensitivity of xeroderma pigmentosum strains is determined by the patient's inherited DNA repair defect. The results suggest that effective DNA repair is required to maintain the functional integrity of the human nervous system by preventing premature death of neurons.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002470:Cell Survival / Q000528:radiation effects; D002648:Child; D002675:Child, Preschool; D004260:DNA Repair / Q000528:radiation effects; D006801:Humans; D008875:Middle Aged; D009422:Nervous System Diseases / Q000150:complications* / Q000378:metabolism; D014466:Ultraviolet Rays; D014983:Xeroderma Pigmentosum / Q000150:complications* / Q000235:genetics / Q000378:metabolism
references.citation: Biochim Biophys Acta. 1977 Dec 14;479(4):400-10
references.pmid: 922009
references.citation: Cancer Res. 1977 Feb;37(2):490-5
references.pmid: 832273
references.citation: Mutat Res. 1976 Nov;37(2-3):307-12
references.pmid: 1034206
references.citation: J Neurol Sci. 1974 May;22(1):91-104
references.pmid: 4275389
references.citation: Proc Natl Acad Sci U S A. 1969 Mar;62(3):852-9
references.pmid: 4308097
references.citation: Mutat Res. 1975 Dec;33(2-3):327-40
references.pmid: 1243579
references.citation: Proc Natl Acad Sci U S A. 1975 Jan;72(1):59-63
references.pmid: 164028
references.citation: Lancet. 1976 Jun 19;1(7973):1318-20
references.pmid: 58310
references.citation: Ann Intern Med. 1974 Feb;80(2):221-48
references.pmid: 4811796
references.citation: Mutat Res. 1973 Dec;20(3):417-28
references.pmid: 4778857
references.citation: J Cell Biol. 1972 May;53(2):587-90
references.pmid: 5025113
references.citation: Biochim Biophys Acta. 1972 Mar 24;262(3):247-55
references.pmid: 5038683
references.citation: Proc Natl Acad Sci U S A. 1975 Jan;72(1):219-23
references.pmid: 1054497
references.citation: JAMA. 1969 Mar 17;207(11):2073-9
references.pmid: 5818379