Resumen

Cockayne is a segmental progeroid syndrome with an autosomal recessive inheritance pattern. It is characterized mainly 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 due to genetic heterogeneity. There are five genes responsible for this syndrome: CSA, CSB, XPB, XPD and XPG in which various mutations have been found. Biochemical effects of these mutations include dysfunctional protein repair system for oxidative damage to DNA, a complex coupled to transcription and nucleotide excision repair (NER) system. Considering the role played by these proteins and its effects on clinical phenotype when they are deficient, we suggest that these genes may be candidates for analyzing susceptibility to common chronic degenerative diseases related to oxidative stress and aging.

Palabras clave: Cockayne CSA gen CSB gen transcriptional defect progeria.

2011-05-09   |   750 visitas   |   Evalua este artículo 0 valoraciones

Vol. 62 Núm.5. Septiembre-Octubre 2010 Pags. 480-490 Rev Invest Clin 2010; 62(5-ENGLISH)