Open Access Thesis
Date of Award
Nutrition and Food Science
Diane C. Cabelof
Understanding the role of nutrition plays in Down syndrome (DS) could help in the development and implementation of strategies that help overcome the negative consequences phenotypes of Down syndrome. Conserving genome integrity is crucial for cells to survive, and thus understanding how genetic defects induce damage to genomic DNA and impair subsequent repair of this damage is important. Evidence accumulated points to increased DNA damage and mutation accumulation associated with a decline in DNA repair capacity, Base Excision Repair (BER) in particular. Thus, the successful clinical management of DS resides in understanding the metabolic imbalance provoked by overexpression of genes on chromosome 21. In our study, we investigate more to propose a mechanism of folate deficiency and POLβ inhibition derived from high dosage of MIR155 and CBS genes, which we hypothesized to provoke some kind of metabolic imbalance in DS by which may explain the reduced activity of BER and reduced thymidine incorporation in DS B- lymphocytes.
Alnabbat, Khadijah Ibrahim, "The Impact Of Down Syndrome And Folate Depletion On Genomic Stabilizing Pathways Of Lymphoblastoid Cells" (2014). Wayne State University Theses. 366.