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학술저널

신경계통의 유전자 손상과 복구 시스템에 대한 임상적 의의

Clinical Implication of DNA Damage and Repair in Neural System

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Defects in the response to DNA single-strand or double-strand breaks underpin many human diseases associated with disorders of the nervous system. During nervous system development endogenous DNA damage often results in apoptosis, although cell replacement can occur from germinal zones within this rapidly proliferating tissue. However, if this damage surveillance is faulty, cells with genomic damage may inappropriately become incorporated into the nervous system, and the subsequent demise of these cells may result in neurodegeneration. I will discuss the various DNA repair pathways known to be active in the nervous system. The importance of DNA repair to the nervous system is most graphically illustrated by the neurological abnormalities observed in patients with hereditary diseases associated with defects in DNA repair. I will consider the mechanisms underlying the neurological abnormalities observed in patients with four of these diseases: xeroderma pigmentosum(XP), Cockayne’s syndrome (CS), ataxia telangectasia (AT) and AT-like disorder (ATLD).

신경계통을 구성하는 세포

신경계통의 일반적인 유전자 손상 복구 시스템

DNA 수복과 관련된 선천성 신경계 질환

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