title: [The metabolic and molecular bases of Cockayne syndrome].
abstract: Cockayne is a segmental progeroid syndrome that has autosomal recessive inheritance pattern. It is mainly characterized by Intrauterine growth retardation, severe postnatal growth deficiency, cachectic dwarfism, microcephaly, wizened face, sensorineural hearing loss, cataracts, dental caries, cardiac arrhythmias, hypertension, atherosclerosis, proteinuria, micropenis, renal failure, skeletal abnormalities, skin photosensitivity, decreased subcutaneous adipose tissue, cerebral atrophy, dementia, basal ganglia calcifications, ataxia and apraxia. It has a complex phenotype given by genetic heterogeneity. There are five gene responsible for this syndrome: CSA, CSB, XPB, XPD and XPG, in which various mutations have been found. The biochemical effect of these mutations includes dysfunctional protein of the repair system for oxidative damage to DNA, the complex coupled to transcription and the nucleotide excision repair system. Considering the role played for these proteins and its effects on clinical phenotype when they are deficient, we suggest that these genes might be candidates for analyzing susceptibility to common chronic degenerative diseases related to oxidative stress and aging.
authors.affiliation: Departamento de Biología Molecular y Genómica CUCS, Universidad de Guadlajara.
authors.forename: Luis Javier
authors.initials: LJ
authors.lastname: Flores-Alvarado
authors.forename: Sergio Alberto
authors.initials: SA
authors.lastname: Ramirez-Garcia
authors.forename: Nelly Yazmine
authors.initials: NY
authors.lastname: Núñez-Reveles
mesh_terms: D002230:Carbidopa / Q000627:therapeutic use; D003057:Cockayne Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004249:DNA Damage; D004265:DNA Helicases / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D004260:DNA Repair / Q000235:genetics*; D045643:DNA Repair Enzymes / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D004268:DNA-Binding Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D003937:Diagnosis, Differential; D004720:Endonucleases / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006130:Growth Disorders / Q000175:diagnosis; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D009154:Mutation; D009687:Nuclear Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D018384:Oxidative Stress / Q000235:genetics; D010641:Phenotype; D010787:Photosensitivity Disorders / Q000175:diagnosis; D000075223:Poly-ADP-Ribose Binding Proteins; D014157:Transcription Factors / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D051759:Xeroderma Pigmentosum Group D Protein / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D000099250:DNA Excision Repair Protein ERCC-5
chemical_list: D002230:Carbidopa; D004265:DNA Helicases; D045643:DNA Repair Enzymes; D004268:DNA-Binding Proteins; D004720:Endonucleases; D007980:Levodopa; D009687:Nuclear Proteins; D000075223:Poly-ADP-Ribose Binding Proteins; D014157:Transcription Factors; D051759:Xeroderma Pigmentosum Group D Protein; D000099250:DNA Excision Repair Protein ERCC-5; C095472:ERCC8 protein, human; C072022:XPBC-ERCC-3 protein; C078673:ERCC6 protein, human; C497292:ERCC2 protein, human