Study Examines Periodontitis and Chédiak-Higashi Syndrome

A paper published in JDR Clinical & Translational Research by an international research team examined the relationship between Chédiak-Higashi syndrome (CHS) and periodontal disease. A rare genetic disorder caused by mutations in the lysosomal trafficking regulator (LYST) gene, CHS is characterized by a type of albinism that affects the eyes, skin and hair. It also causes abnormal bleeding, recurrent bacterial infections, impaired immune and neurological function, and is often associated with aggressive periodontitis.

The study, “Periodontitis in Chédiak-Higashi Syndrome: An Altered Immunoinflammatory Response,” investigated periodontal status in patients with classic and atypical CHS, and also examined the effect of LYST gene mutations on expressions of two toll-like receptors (TLRs) that sense pathogenic threats. In turn, TLRs help generate a host response to disease-causing microbes and guide the immune-regulating functions of gingival fibroblasts, which form gingival tissue.

In the study, none of the atypical CHS patients underwent bone marrow transplants, while all patients with classic CHS received bone marrow transplantation. In comparing gingival fibroblast cells from patients with classic CHS, when exposed to Fusobacterium nucleatum extract — a bacterial species associated with periodontal disease — the researchers found that cells from atypical CHS patients showed increased cytokine production. “These findings suggest that LYST mutations may affect TLR-2 and TLR-4 expression and function, and lead to a dysregulated immunoinflammatory response, which, in turn, influences the periodontal disease phenotype noted in CHS patients,” the authors report.