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The University of Southampton
Biological Sciences

Research project: Epigenetic mechanisms in metabolic bone disease: from pathology to biomarker

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Identification of epigenetic markers predictive of later bone health

An adverse intra uterine environment has been associated with the development of a range of chronic disease in later life including osteoporosis. Epigenetic regulation of gene function has been suggested as one mechanism by which early life environmental factors can induce persistent phenotypic changes. Epigenetic processes such as DNA methylation induce heritable changes in gene expression without a change in nucleotide sequence. Epigenetic regulation is central to the control of gene expression, regulating genomic imprinting, X chromosome inactivation, and cell specification. Epigenetic processes have also been implicated in the process of developmental plasticity; the mechanism by which an organism adjusts its developmental trajectory in response to environmental cues with long term effects on gene expression and phenotype There is also evidence that a similar mechanism may operate in humans, as differences in the methylation of a number of imprinted and non-imprinted genes have been found in the peripheral blood leukocytes of individuals whose mothers were exposed to famine during pregnancy. We have also shown that that the methylation of a CpG site within the promoter of the RXRA gene in umbilical cord at birth predicted greater than 25% of the variation in %fat mass in children aged 6 and 9 years. This supports the paradigm that developmentally induced epigenetic marks make a significant contribution to later phenotype and suggests that the detection of such marks even in peripheral tissues may provide useful predictive markers of later phenotype in more disease relevant cell types.

As the identification of such markers would be extremely valuable for assessing individuals at risk of future non-communicable disease and may allow the identification of novel pathways that influence phenotype , the aim of this project is to identify perinatal epigenetic markers of later bone health. To identify such marks a genome wide DNA methylation analysis using an MBD array will be carried out to identify differences in DNA methylation levels in umbilical cord tissue collected at birth, associated with bone mineral density at 6 years of age. Regions of differential methylation will be validated and their role in bone development assessed.

Funding: MRC October 2012 - September 2015

Related research groups

Molecular and Cellular Biosciences
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