Date of Completion
Autism and Autism Spectrum Disorders effect up to 2% of the population. Data suggests that a combination of genetic and environmental factors lead to the development of these disorders. One candidate for involvement in the onset of the disease is oxidative stress. Increased oxidative stress has been linked to Autism and Autism Spectrum Disorders. Transketolase-like 1 (TKTL1) is believed to be involved in the non-oxidative phase of the pentose phosphate pathway (PPP) which produces ribose. This is separate from the oxidative phase of the PPP which produces ribose along with NADPH. NADPH is essential for the production of antioxidants and the maintenance of reactive oxygen species at levels low enough to prevent oxidative stress. Altered expression of TKTL1 could be correlated with an increased production of ribose from the non-oxidative phase causing negative feedback, decreasing production of ribose and NADPH from the oxidative phase and increasing risk for oxidative stress. This investigation analyzed DNA sequences and RNA expression data from control and autistic sample groups and from Turner’s Syndrome lymphoblast cell lines in order to determine the imprinting status of TKTL1 and to compare the expression levels between the autistic and control groups. RNA expression results indicate no statistically significant difference in TKTL1 when comparing the autistic and control groups but show significant variation between individuals of both groups. Sequencing results demonstrate that TKTL1 is potentially imprinted in a sub-region specific manner within the brain in the control group but that imprinting is not present in the autistic samples.
Yerxa, Hannah P., "Investigation of Genomic Imprinting in the X-linked Transketolase-like Protein 1 (TKTL1) in Human and the Implications for Autism" (2015). Honors Scholar Theses. 448.