DNA damage to human genetic disorders with neurodevelopmental defects
Journal of Genetic Medicine
; : 1-13, 2016.
Article
em En
| WPRIM
| ID: wpr-164788
Biblioteca responsável:
WPRO
ABSTRACT
Although some mutations are beneficial and are the driving force behind evolution, it is important to maintain DNA integrity and stability because it contains genetic information. However, in the oxygen-rich environment we live in, the DNA molecule is under constant threat from endogenous or exogenous insults. DNA damage could trigger the DNA damage response (DDR), which involves DNA repair, the regulation of cell cycle checkpoints, and the induction of programmed cell death or senescence. Dysregulation of these physiological responses to DNA damage causes developmental defects, neurological defects, premature aging, infertility, immune system defects, and tumors in humans. Some human syndromes are characterized by unique neurological phenotypes including microcephaly, mental retardation, ataxia, neurodegeneration, and neuropathy, suggesting a direct link between genomic instability resulting from defective DDR and neuropathology. In this review, rare human genetic disorders related to abnormal DDR and damage repair with neural defects will be discussed.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Fenótipo
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Ataxia
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Dano ao DNA
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Envelhecimento
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DNA
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Doenças do Sistema Nervoso Central
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Morte Celular
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Senilidade Prematura
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Instabilidade Genômica
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Reparo do DNA
Limite:
Humans
Idioma:
En
Revista:
Journal of Genetic Medicine
Ano de publicação:
2016
Tipo de documento:
Article