Down syndrome as a model of DNA polymerase beta haploinsufficiency and accelerated aging

@article{Patterson2012DownSA,
  title={Down syndrome as a model of DNA polymerase beta haploinsufficiency and accelerated aging},
  author={D. Patterson and D. C. Cabelof},
  journal={Mechanisms of Ageing and Development},
  year={2012},
  volume={133},
  pages={133-137}
}
  • D. Patterson, D. C. Cabelof
  • Published 2012
  • Biology, Medicine
  • Mechanisms of Ageing and Development
    • Down syndrome is a condition of intellectual disability characterized by accelerated aging. As with other aging syndromes, evidence accumulated over the past several decades points to a DNA repair defect inherent in Down syndrome. This evidence has led us to suggest that Down syndrome results in reduced DNA base excision repair (BER) capacity, and that this contributes to the genomic instability and the aging phenotype of Down syndrome. We propose important roles for microRNA and/or folate… CONTINUE READING
    View on Elsevier
    doi.org
    35 Citations
    Highly Influencial Citations
    2
    Background Citations
    15
    Results Citations
    1

    Figures, Tables, and Topics from this paper

    Figures and Tables

    Explore Further: Topics Discussed in This Paper

    35 Citations
    Citation Type

    Citation Type

    The Impact Of Down Syndrome And Folate Depletion On Genomic Stabilizing Pathways Of Lymphoblastoid Cells
    Down syndrome, accelerated aging and immunosenescence
    • 2
    • PDF
    DNA Hydroxymethylation Levels Are Altered in Blood Cells From Down Syndrome Persons Enrolled in the MARK-AGE Project
    • 12
    • PDF
    Defective DNA repair and increased chromatin binding of DNA repair factors in Down syndrome fibroblasts.
    • 17
    Epigenetic signature in persons with Down Syndrome
    • PDF
    DNA polymerase β deficiency leads to neurodegeneration and exacerbates Alzheimer disease phenotypes
    • 70
    • PDF
    Accelerated epigenetic aging in Down syndrome
    • 282
    Metabolomics of Mammalian and Cellular Models of Aging
    • Highly Influenced
    Loss of DNA polymerase β induces cellular senescence
    • 3
    Rapamycin Treatment Ameliorates Age-Related Accumulation of Toxic Metabolic Intermediates in Brains of the Ts65Dn Mouse Model of Down Syndrome and Aging
    • 6
    • PDF

    References

    SHOWING 1-10 OF 84 REFERENCES
    Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome.
    • 63
    • Highly Influential
    Imbalanced Base Excision Repair in Response to Folate Deficiency Is Accelerated by Polymerase β Haploinsufficiency*
    • 43
    • PDF
    Trisomy 21 and accelerated aging: DNA-repair parameters in peripheral lymphocytes of Down's syndrome patients
    • 42
    Haploinsufficiency in DNA polymerase beta increases cancer risk with age and alters mortality rate.
    • 66
    • PDF
    Early glycoxidation damage in brains from Down's syndrome.
    • 109
    Base excision repair deficiency caused by polymerase beta haploinsufficiency: accelerated DNA damage and increased mutational response to carcinogens.
    • 97
    Systemic mitochondrial dysfunction and the etiology of Alzheimer's disease and down syndrome dementia.
    • 114
    • PDF
    Biomarkers of oxidative stress are significantly elevated in Down syndrome.
    • 174
    Folate deficiency regulates expression of DNA polymerase β in response to oxidative stress.
    • 21
    Homocysteine metabolism in children with Down syndrome: in vitro modulation.
    • 214