{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Beta‐defensin 134 (DEFB134) is a member of the beta‐defensin family—a group of peptides known for their roles in innate immunity and the regulation of inflammatory responses. Evidence from proteomic profiling of expressed prostatic secretions in patients with chronic prostatitis indicates that DEFB134 is differentially expressed compared to healthy individuals, suggesting that it may contribute to the local host‐defense mechanisms and inflammatory modulation in the male reproductive tract."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, DEFB134 is positioned within a cluster of beta‐defensin genes on chromosome 8p23.1—a genomic hotspot that is frequently affected by microdeletions. Studies on deletions in this region, which include several defensin genes along with others such as GATA4 and NEIL2, have been linked to congenital anomalies including diaphragmatic hernia and cardiac defects. Although the phenotypic manifestations in these cases are primarily attributed to dosage alterations in adjacent key developmental regulators, the co‐loss of DEFB134 raises the possibility that changes in its copy number or expression might also play a modulatory role, perhaps via affecting proteolytic or immune‐mediated pathways during development."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Together, these observations highlight a dual aspect of DEFB134 function—both in local mucosal immunity, as evidenced in chronic inflammatory conditions of the prostate, and as a component of a genomic region whose structural variation has implications for congenital defects. Further studies will be needed to delineate the direct contributions of DEFB134 in these processes.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Xiao-Fan Dai, Kai-Min Guo, Cong-Qi Du, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Expressions of differential proteins in the expressed prostatic secretion of patients with III A chronic prostatitis]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Nan Ke Xue (2013)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24386853"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24386853"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Elisabeth A Keitges, Romela Pasion, Rachel D Burnside, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.35965"}], "href": "https://doi.org/10.1002/ajmg.a.35965"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23696316"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23696316"}]}]}]}