DNA damage to human genetic disorders with neurodevelopmental defects.
- Author:
Youngsoo LEE
1
;
Inseo CHOI
;
Jusik KIM
;
Keeeun KIM
Author Information
- Publication Type:Review
- Keywords: DNA damage; DNA repair; Single-stranded DNA breaks; Double-stranded DNA breaks; Central nervous system diseases
- MeSH: Aging; Aging, Premature; Ataxia; Cell Cycle Checkpoints; Cell Death; Central Nervous System Diseases; DNA Breaks, Double-Stranded; DNA Breaks, Single-Stranded; DNA Damage*; DNA Repair; DNA*; Genomic Instability; Humans*; Immune System; Infertility; Intellectual Disability; Microcephaly; Neuropathology; Phenotype
- From:Journal of Genetic Medicine 2016;13(1):1-13
- CountryRepublic of Korea
- Language:English
- 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.
