Epigenetic signature in persons with Down Syndrome

Persons affected by Down Syndrome show a heterogeneous phenotype that includes developmental defects and cognitive and haematological disorders. Premature accelerated aging and the consequent development of age associated diseases like Alzheimer Disease (AD) seem to be the cause of higher mortality late in life of DS persons. Down Syndrome is caused by the complete or partial trisomy of chromosome 21, but it is not clear if the molecular alterations of the disease are triggered by the specific functions of a limited number of genes on chromosome 21 or by the disruption of genetic homeostasis due the presence of a trisomic chromosome. As epigenomic studies can help to shed light on this issue, here we used the Infinium HumanMethilation450 BeadChip to analyse blood DNA methylation patterns of 29 persons affected by Down syndrome (DSP), using their healthy siblings (DSS) and mothers (DSM) as controls. In this way we obtained a family-based model that allowed us to monitor possible confounding effects on DNA methylation patterns deriving from genetic and environmental factors. We showed that defects in DNA methylation map in genes involved in developmental, neurological and haematological pathways. These genes are enriched on chromosome 21 but localize also in the rest of the genome, suggesting that the trisomy of specific genes on chromosome 21 induces a cascade of events that engages many genes on other chromosomes and results in a global alteration of genomic function. We also analysed the methylation status of three target regions localized at the promoter (Ribo) and at the 5’ sequences of 18S and 28S regions of the rDNA, identifying differently methylated CpG sites. In conclusion, we identified an epigenetic signature of Down Syndrome in blood cells that sustains a link between developmental defects and disease phenotype, including segmental premature aging.

Neo-commodification of persons: exploitation of personal data and impact on the sharing economy

The notion of commodification is a fascinating one. It entails many facets, ranging from subjective debates on desirability of commodification to in depth economic analyses of objects of value and their corresponding markets. Commodity theory is therefore not just defined by a single debate, but spans a plethora of different discussions. This thesis maps and situates those theories and debates and selects one specific strain to investigate further. This thesis argues that commodity theory in its optima forma deals with the investigation into what sets commodities apart from non-commodities. It proceeds to examine the many given answers to this question by scholars ranging from the mid 1800’s to the late 2000’s. Ultimately, commodification is defined as a process in which an object becomes an element of the total wealth of societies in which the capitalist mode of production prevails. In doing so, objects must meet observables, or indicia, of commodification provided by commodity theories. Problems arise when objects are clearly part of the total wealth in societies without meeting established commodity indicia. In such cases, objects are part of the total wealth of a society without counting as a commodity. This thesis examines this phenomenon in relation to the novel commodities of audiences and data. It explains how these non-commodities (according to classical theories) are still essential elements of industry. The thesis then takes a deep dive into commodity theory using the theory on the construction of social reality by John Searle.