DNA damage to human genetic disorders with neurodevelopmental defects
Journal of Genetic Medicine
; : 1-13, 2016.
Article
ي En
| WPRIM
| ID: wpr-164788
المكتبة المسؤولة:
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.
Key words
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Phenotype
/
Ataxia
/
DNA Damage
/
Aging
/
DNA
/
Central Nervous System Diseases
/
Cell Death
/
Aging, Premature
/
Genomic Instability
/
DNA Repair
المحددات:
Humans
اللغة:
En
مجلة:
Journal of Genetic Medicine
السنة:
2016
نوع:
Article