Correspondence between enamel hypoplasia and odontometric bilateral asymmetry in Australian twins

Four aspects of enamel hypoplasia of the maxillary central incisor and mandibular canine (hypoplasia presence, width, cumulative width, and crown position) were correlated with directional and fluctuating measures of bilateral odontometric asymmetry in a large panel (n = 950) of South Australian twins. Hypoplasia and asymmetry are thought to reflect general developmental disruption, but they show few correlations beyond the expected statistical type I error. This may relate to differences in their specific etiology, the composite nature of overall crown dimensions, a general lack of stress, and the extended period of formation of dental crowns. In contrast, asymmetry is marginally more detectable in a subsample separated according to hypoplastic teeth, suggesting that correspondence may be clearer in comparisons at the population rather than individual level. The most notable difference is the greater variability of asymmetry measures in hypoplastic individuals.     

Lim 1 is required for nephric duct extension and ureteric bud morphogenesis

The nephric duct plays a central role in orchestrating the development of the mammalian urogenital system. Lim 1 is a homeobox gene required for head and urogenital development in the mouse but most Lim 1-deficient embryos die by embryonic day 10. To determine the role of Lim 1 in the development of the nephric duct, we conditionally removed Lim 1 in the nephric epithelium just after the nephric duct begins to form using a floxed allele of Lim 1 and Pax2-cre transgenic mice. We report that Lim 1 conditional knockout mice have renal hypoplasia and hydronephrosis. Developmental studies revealed that the caudal portion of the nephric duct did not reach the urogenital sinus at embryonic day 10.5, formation of the ureteric bud was delayed, the ureteric bud was smaller and branching of the ureteric bud reduced. We also found that the nephric duct was generally not maintained and extension of the Müllerian duct inhibited. Molecular analysis indicated that Pax2 was expressed normally but the expression of Wnt9b and E-cadherin in the nephric duct was markedly altered. These results suggest that Lim 1 influences nephric duct extension and ureteric bud outgrowth by regulating and or maintaining the differentiation of the nephric epithelium.     

Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome

CHARGE syndrome is an autosomal dominant congenital disorder known to be caused by the haploinsufficiency of the CHD7 gene. Heterozygous mutations in the CHD7 gene have been identified in approximately 60–70% of patients clinically diagnosed with CHARGE syndrome. Although there have been many reports on the mutational spectrum of the CHD7 gene in patients with CHARGE syndrome worldwide, little is known about this syndrome in the Korean population. In this study, three Korean patients with CHARGE syndrome including one patient with Patau syndrome were evaluated for genetic analysis of the CHD7 gene using direct sequencing of all 38 exons and the flanking intronic regions. One nonsense and two novel missense mutations were identified in the CHD7 gene. Clinical symptoms caused by the missense mutations were much milder compared to the nonsense mutation, confirming the previously determined genotype–phenotype correlation in CHARGE syndrome. Our study demonstrates the importance of mutational screening of CHD7 in patients who have been diagnosed with other syndromes but display clinical features of CHARGE syndrome.     

Dental indicators of health and stress in early Egyptian and Nubian agriculturalists: a difficult transition and gradual recovery

Although agriculture is now the globally predominant mode of food production, studies of the skeletal remains of early agriculturalists have indicated high levels of physiological stress and poor health relative to hunter-gatherers in similar environments. Previous studies identifying this trend in different regions prompt further research of the causes and effects of subsistence transitions in human societies. Here, 242 dentitions from five ancient Egyptian and Nubian populations are examined: 38 individuals from Jebel Sahaba (Upper Paleolithic), 56 from Badari (Predynastic), 54 from Naqada (Predynastic), 47 from Tarkhan (Dynastic), and 47 from Kerma (Dynastic). These populations span the early period of agricultural intensification along the Nile valley. Skeletal remains were scored for the presence of linear enamel hypoplasia (LEH) of the dentition, an established indicator of physiological stress and growth interruption. The prevalence of LEH was highest in the "proto-agricultural" (pastoralist) Badari population, with a gradual decline throughout the late Predynastic and early Dynastic periods of state formation. This suggests that the period surrounding the emergence of early agriculture in the Nile valley was associated with high stress and poor health, but that the health of agriculturalists improved substantially with the increasing urbanization and trade that accompanied the formation of the Egyptian state. This evidence for poor health among proto- and early agriculturalists in the Nile valley supports theories that agricultural intensification occurred as a response to ecological or demographic pressure rather than simply as an innovation over an existing stable subsistence strategy.     

Dental health indicators of hunter-gatherer adaptation and cultural change in Siberia's Cis-Baikal

This investigation of the Cis-Baikal dental record focuses on health and lifestyle reconstruction of the region's mid-Holocene foragers, with particular interest in an apparent fifth millennium BC biocultural hiatus. The four cemetery populations considered represent two distinct biological and cultural groups separated by an apparent 700-year hiatus: the late Mesolithic-early Neolithic Kitoi culture (6800-4900 BC) and the middle Neolithic-early Bronze Age Serovo-Glaskovo cultural complex (4200-1000 BC). Research focuses on the frequency and severity of seven dental health indicators: enamel hypoplasia, caries, alveolar defects, periodontitis, antemortem tooth loss, dental calculus, and dental attrition. Together, these seven indicators provide a basis not only for better understanding mid-Holocene lifeways in the Cis-Baikal but also for independently assessing the relative effectiveness of the different adaptive strategies employed by pre- and posthiatus peoples. Results reveal some discrepancies between the Kitoi and Serovo-Glaskovo, specifically in their relative vulnerability to physiological stress, providing evidence to support previous interpretations of their distinct adaptive regimes (namely the narrower resource base and decreased mobility of the former). Results also suggest that some of the differences observed among the four sites may reflect geographical or environmental factors rather than simply cultural ones. However, despite these distinctions, the overriding trend appears to be one of general continuity, social equality, and good health among all mid-Holocene occupants of the Cis-Baikal, pre- and posthiatus alike.     

步氏巨猿的牙齿釉质发育不全

在步氏巨猿后部齿的绝大部分类别中检出有釉质发育不全的标本,患釉质发育不全的个体数高达14.3—17.9％。类似的情况可见之于南非的南方古猿类。步氏巨猿的釉质发育不全很大可能是由于营养上的原因。     

Is Aberrant DNA Methylation a Key Factor in Molar Incisor Hypomineralization?

Molar incisor hypomineralization (MIH) is a qualitative disturbance of the enamel of the permanent molars and/or incisors. Its etiology is not clearly defined but is connected with different factors occurring before and after birth. It remains difficult to identify a single factor or group of factors, and the problem is further complicated by various overlapping mechanisms. In this study, we attempted to determine whether DNA methylation—an epigenetic mechanism—plays a key role in the etiology of MIH. We collected the epithelium of the oral mucosa from children with MIH and healthy individuals and analyzed its global DNA methylation level in each child using a 5-mC DNA ELISA kit after DNA isolation. There was no statistically significant difference between the global DNA methylation levels in the study and control groups. Then, we also analyzed the associations of the DNA methylation levels with different prenatal, perinatal, and postnatal factors, using appropriate statistical methods. Factors such as number of pregnancies, number of births, type of delivery, varicella infection (under 3 years old), and high fever (under 3 years old) were significantly important. This work can be seen as the first step towards further studies of the epigenetic background of the MIH etiology.