We have confirmed that in patients with a frame-shift mutation, the HBDs protein were completely absent. The growing interest in beta defensins is steadily enhancing our knowledge about various aspects of their genelocation and expression patterns and the transcription factors involved in their regulation. The hBD genomic structure consists of two exons and one intron. Both Pc and PCG regions also demonstrate early stage hypometabolic activity as shown by fluorodeoxyglucose -positron emission tomography scans, which is accentuated in apolipoprotein E e4 gene allele carriers. In addition, the PCG demonstrates a significant reduction of mitochondrial cytochrome C oxidase activity in young adults that carry the APOE e4 allele. As it was determined that the aggregation of positive charges at the C-terminal section is important for antimicrobial activity, the introduction of a negatively charged residue is predicted to affect the protein function. The DMN has been suggested to malfunction in AD and other neurological disorders. Whether these morphological, biochemical and hemodynamically-related perturbations affecting DMN communication are a facet of primary AD pathogenesis or are a secondary process remains to be established. The Pc and PCG have been associated with a higher burden of fibrillar Ab in cognitively normal older individuals as determined by Pittsburgh compound B -PET scans, although this observation has been disputed. The first exon encodes the signal peptide, and the second encodes a mature peptide preceded by a short anionic pro-peptide. In addition to having similar protein folding and structure, the structures of hBD1,-2,and-3 have also revealed that each protein is stabilized by three disulfide bridges between conserved cysteines. The other mutations found in the hBD promoter region are predicted to affect the expression/stability of the regulatory regions in colon cancer tissues, which explains why the expression of these hBDs were decreased in colon cancer tissues compared with normal tissues.