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Abstract
Neurodegeneration with brain iron accumulation (NBIA) includes disorders caused by mutations in PANK2 and PLA2G6, yet the regulatory functions of these genes remain poorly understood. This dissertation investigates their transcriptional control and developmental expression. First, a promoter for the short PANK2 isoform was identified along with candidate transcriptional regulators, confirming its biological relevance. Second, analysis of conserved microRNAs (miR‑103/107) showed that their expression does not parallel PANK genes, suggesting post‑transcriptional regulation. Third, fetal tissue studies revealed widespread PLA2G6 and PANK2 expression in developing brain regions, indicating roles in early neuronal development. These findings enhance understanding of NBIA gene regulation and potential disease mechanisms.