We report a possible rheumatoid arthritis (RA) case found in a Korean Joseon Dynasty (1392Dynasty ( -1910 tomb encapsulated by a lime-soil mixture barrier (LSMB). The tomb is thought to have been constructed during the 1700s AD (1760 AD by carbon dating). In our anthropological examination, joint destruction, erosion or fusion (signs of polyarthritis) were identified mainly in the peripheral skeleton. Especially in both sides of the wrist bones, severe destruction/joint fusion possibly caused by polyarthritis was observed. A similar polyarthritis pattern also was seen in the right foot bones, even though we failed to confirm this symmetry due to the missing left foot bones. Despite these findings, signs suggestive of polyarthritis are very rarely seen in axial bones, even though bony fusions are found in the atlanto-occipital joint or thoracic vertebrae (TV) 9-10. By the osteological signs observed in this case, the individual, a female, might have been suffering from a very late stage of RA and died in her 40s, even though other forms of chronic arthritis could not be ruled out completely. Though the current case could not provide evidence to decisively settle the debates on the antiquity of RA, our report could be a stepping stone for forthcoming studies on RA cases found in East Asian countries.

Diffuse idiopathic skeletal hyperostosis (DISH) is a disorder showing hyperostosis of the spinal column and ossification of extraspinal ligaments or tendons. The prevalence of DISH has been found to be higher in historic peoples of the upper-and ruling classes, and in fact was closely correlative with nutritional and high-caloric diets. DISH is also known to be a function of genetic factors; as such, there have been very few cases of DISH found among the specimens of Asian skeletal collections. In our osteoarchaeological study on the Joseon Dynasty Human Sample Collection (JDHSC), we found four DISH instances among the 96 cases (4.17%) we examined. This prevalence is not so different from those discovered in already-published studies on collections in Europe and other regions. However, as already stated, it must be considered that most of the JDHSC individuals we examined were remains of people from the highest social classes of 16th-18th century Joseon society. Therefore, when collections from medieval European monastic sites, the appropriate control from well-fed populations, were used for comparison, the prevalence of DISH was found to be far lower among the JDHSC. Reports on DISH from examinations of collections in Asian countries have been spotty, leaving gaps in the social-strata spectrum. Further researches into the prevalence of DISH among the different social strata of ancient or medieval Asian peoples are still required.

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Notwithstanding the relative abundance of bioarchaeological evidence of pre-20th century gunshot wounds discovered at European and American archaeological sites, similar findings in East Asian countries have been very rare. In this study, we report evidence of possible gunshot wounds sustained by two individuals buried in Joseon tombs of Korea. The shapes of the trauma seemed to indicate low-velocity projectiles, most likely musket balls. To our knowledge, this is the first bioarchaeological report specifically concerning possible gunshot-wound evidence in East Asian skeletons recovered from archaeological fields.

Ataxia-telangiectasia (A-T) is a genetic disease caused by germline biallelic mutation in the ataxia-telangiectasia mutated gene (ATM) that results in partial or complete loss of ATM expression or activity. A diverse phenotype of the disease includes progressive cerebellar ataxia, oculocutaneous telangiectasias, radiation hypersensitivity, increased cancer incidence, immunodeficiency and chromosomal instability. The frequency of A-T in the United States and United Kingdom has been estimated to be 1:40 000. Heterozygous carriers may also have predisposition to diverse cancers. Although ATM-deficient mice have been produced, none reflects the extent of neurological abnormalities involving the loss of Purkinje cells of the cerebellum seen in patients. Hence, miniature pigs, which are anatomically and physiologically closer to humans, might serve as an alternative model for human A-T. In the present study, we attempted a targeted disruption of ATM in miniature pigs by somatic cell nuclear transfer. Most A-T patients possess mutated ATM with truncation, resulting in prematurely terminated ATM proteins that are highly unstable. To induce the truncation of ATM, we disrupted exon 59 region of ATM that has been known to be critical for ATM kinase activity. Miniature pig fetal fibroblasts were transfected with ATM-targeting vector and treated by neomycin for 2 weeks. A total of 139 colonies were screened by PCR and 3 among them were identified as homologous recombinants with monoallelic disruption of ATM (targeting efficiency = 2.1%). One of the 3 colonies was chosen and used for subsequent nuclear transfer. In total, 611 nuclear transfer embryos reconstructed with ATM-targeted fetal fibroblasts were transferred into 5 surrogate gilts. Two gilts became pregnant and developed to term with a total of 5 live piglets delivered. Being analysed by PCR, all piglets born were found to be ATM gene-targeted. Because conventional murine models of human A-T have provided only limited insights into therapies and pharmacological treatments, the generation of miniature pigs with disrupted ATM will allow new opportunities to more precisely understand A-T and to accelerate discovery of strategies for prevention and treatment of the disease. In addition, such animals may be utilised in studying cancer with respect to the involvement of ATM in cell cycle arrest, DNA repair and apoptosis.