Estimation of the time of divergence between Japanese Mishima island cattle and other cattle populations using microsatellite DNA markers

We applied the theory of random genetic drift to determine the divergence history of a closed cattle population over the relatively short timescale of several hundred years. The divergence history of the closed population of Mishima Island cattle, a national natural treasure of Japan, was examined, and the results were compared with historical documents. Inbreeding depression in the isolated population was investigated for body size and fertility. Twenty-one DNA microsatellite markers in Mishima Island cattle and 3 major breeds from the mainland were genotyped. For the mainland breeds, all 21 or 20 markers were segregating. However, nearly half the number of loci (9 of 21) was fixed in the Island cattle. The average number of alleles per locus of Island cattle was markedly lower than that in the mainland breeds. These results support the theory that Island cattle have been isolated for a considerable period of time. The number of generations of isolation was estimated as 14.1-22.6, and the year of divergence was calculated as 1778-1846. In view of these findings, we propose that Island cattle diverged from the mainland population at around 1800 and were isolated for about 200 years. These estimates are in agreement with historical documents showing that divergence occurred between 1672 and 1880. The total inbreeding coefficient of the present population was predicted to be in the range of 0.51-0.60. However, historical reports dated over 100 years do not support changes in fertility, so that there is no evidence for inbreeding depression

Identification of a Biallelic Missense Variant in Gasdermin D (c.823G > C, p.Asp275His) in a Patient of Atypical Gorham‐Stout Disease in a Consanguineous Family

ABSTRACT Gorham–Stout disease (GSD), also called vanishing bone disease, is a rare osteolytic disease, frequently associated with lymphangiomatous tissue proliferation. The causative genetic background has not been noted except for a case with a somatic mutation in KRAS. However, in the present study, we encountered a case of GSD from a consanguineous family member. Whole‐exome sequencing (WES) analysis focusing on rare recessive variants with zero homozygotes in population databases identified a homozygous missense variant (c.823G > C, p.Asp275His) in gasdermin D (GSDMD) in the patient and heterozygous in his unaffected brother. Because this variant affects the Asp275 residue that is involved in proteolytic cleavage by caspase‐11 (as well as ‐4 and ‐5) to generate an activating p30 fragment required for pyroptotic cell death and proinflammation, we confirmed the absence of this cleavage product in peripheral monocytic fractions from the patient. A recent study indicated that a shorter p20 fragment, generated by further cleavage at Asp88, has a cell‐autonomous function to suppress the maturation of osteoclasts to resorb bone matrix. Thus, the present study suggests for the first time the existence of hereditary GSD cases or novel GSD‐like diseases caused by GSDMD deficiency. © 2023 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research

Nutritional Status and Oral Frailty: A Community Based Study

Compromised oral health can alter food choices. Poor masticatory function leads to imbalanced food intake and undesirable nutritional status. The associations among nutritional status, oral health behavior, and self-assessed oral functions status were investigated using a community-based survey. In total, 701 subjects more than 50 years old living Ebina city located southwest of the capital Tokyo were investigated. The number of remaining teeth was counted by dental hygienists. Oral health behavior and self-assessed oral functions were evaluated by oral frailty checklist. Nutritional status was evaluated by the brief-type self-administered diet history questionnaire using Dietary Reference Intakes for Japanese as reference. More than 80% of subjects’ intakes of vitamin B12, pantothenic acid, copper, and proteins were sufficient. In contrast, only 19% of subjects’ intake of vitamin A was sufficient and 35.5% for vitamin B1. More than 90% of subjects’ intakes of vitamin D and vitamin K were sufficient. Only 35.5% of subjects’ intakes of dietary fiber were sufficient. Overall, 88.9% of subjects had excess salt. The number of remaining teeth was not correlated with nutritional intakes. Oral health behavior significantly correlated with nutritional intakes. Oral functions are important for food choice; however, oral functions were not directly correlated with nutritional intakes. Comprehensive health instructions including nutrition and oral health education is necessary for health promotion

Structure and Validity of Questionnaire for Oral Frail Screening

Oral frailty is defined as the mild decline in oral function and located at the early and reversible stage of frailty. Therefore, early detection and early treatment of oral frailty is very useful. Simple and easy questionnaires, such as an oral frailty checklist, have been widely used for the screening and enlightenment of oral frailty of the Japanese people. We evaluate the structure and validity of the oral frailty checklist. The questionnaire of oral frailty was distributed for the citizens more than 50 years old from December 2018 to January 2019. The structural validity of the questionnaire is analyzed by structural equation modeling (SEM). The characteristics of the items are analyzed by Item Response Theory (IRT). The data of 725 subjects (360 men, 359 women, 6 no answer, mean age 71.3 ± 9.05) are analyzed. The questionnaire consisted of three latent variables. Items of “Brushing teeth at least twice a day”, “Regular attendance of dental clinic”, and “Using denture”, had low discrimination ability. The questionnaire used in this study is a useful tool for the screening of oral frailty. However, its scoring system needs to be improved