A Family Study of a Mother and Daughter with Increased Susceptibility to Early‐Onset Periodontitis: Microbiological, Immunological, Host Defensive, and Genetic Analyses

Abstract

Microbiological, immunological, host‐defensive, and genetic analyses were performed on a mother and daughter, both of whom had early‐onset periodontitis (rapidly progressive periodontitis in the mother; localized juvenile periodontitis in the daughter). Microscopic examination revealed a greatly elevated percentage of rod‐form bacteria in both subjects. Fusobacterium sp. and Porphyromonas gingivalis (formerly Bacteroides gingivalis) were the predominant microorganisms cultured. The humoral immune responses to F. nucleatum, P. gingivalis, and Actinobacillus actinomycetemcomitans were much higher in both subjects than those to any other periodontal bacteria examined. Functional and phenotypic analysis of the peripheral lymphocytes showed no significant abnormalities. However, investigation of neutrophil function showed that the mother had depressed neutrophil Chemotaxis and Superoxide production. The daughter had depression not only of Chemotaxis and Superoxide production, but also of neutrophil phagocytosis. Serological typing of HLA antigens revealed the same Class II HLA profile in both subjects. It was concluded that both subjects very probably had an identical condition and that these patients provided a unique model for improving our understanding of the host factors involved in periodontal disease. J Periodontol 1990; 61:755–765.

Hematological values in juvienile periodontitis patients in Ibadan, Nigeria

“…However, studies reported to date have not shown much consistency in the association of HIL.A phenotype with periodontal disease. Nishimura et al (1990) reported that the association between HLA antigens and periodontal disease differs from race to race. Suzuki et al (1985) reported that depressed neutrophil functions is not restored after periodontal therapy and suggested that such neutrophil dysfunction is congenital.…”

Genetic and Heritable Risk Factors in Periodontal Disease

“…However, several forms have been reported in the same family.10,25,27,29"31 Some authors have postulated that localized and generalized JP are clinical variants of the same condition,31 and that the generalized form is a later and more severe expression of the localized disease.32 However, in some families the generalized form has been noted in younger individuals, while older siblings display only the localized form.29 Since these disorders frequently occur in the same family, it has been suggested that they have related genetic causes. 25,31 Another approach to the study of genetic risk factors in periodontal disease is to examine associations between disease and inherited tissue markers. Some conditions such as ankylosing Spondylitis and coeliac disease are strongly associated with certain HLA specificities, which suggest that genes which confer susceptibility to these disorders are in linkage disequilibrium with genes in the major histocompatibility complex (HLA specificities are encoded by class I and II MHC genes).…”

Genetic Influences in Caries and Periodontal Diseases

“…Yet today, the precise reasons for such familial clustering remain largely unclear, although the genetic mechanism for commonly occurring chronic diseases is generally acknowledged to have a complex etiology (Potter, 1990;Nishimura et al, 1990). In its traditional and most restrictive form, the family method for ascertainment of information about the heritability of certain characteristics consists of pedigree analysis.…”