11 research outputs found
A multidimensional account of democratic legitimacy: how to make robust decisions in a non-idealized deliberative context
This paper analyses the possibility of granting legitimacy to democratic decisionmaking procedures in a context of deep pluralism. We defend a multidimensional
account according to which a legitimate system needs to grant, on the one hand, that citizens should be included on an equal footing and acknowledged
as reflexive political agents rather than mere beneficiaries of policies, and, on the other hand, that their decisions have an epistemic quality. While Estlund\u2019s
account of imperfect epistemic proceduralism might seem to embody a dualistic conception of democratic legitimacy, we point out that it is not able to recognize
citizens as reflexive political agents and is grounded in an idealized model of the circumstances of deliberation. To overcome these ambiguities, we develop an
account of democratic legitimacy according to which disagreement is the proper expression of citizens\u2019 reflexive agency and the attribution of epistemic authority
does not stem from a major expertise or specific ability, but it comes through the public confrontation among disagreeing agents. Consequently, the epistemic
value of deliberation should be derived from the reasons-giving process rather than from the reference to the alleged quality of its outcomes. In this way, we
demonstrate the validity of the multidimensional perspective of legitimacy, yet abstain from introducing any outcome-oriented criterion. Finally, we argue that
this account of legitimacy is well suited for modeling deliberative democracy as a decision-making procedure that respects the agency of every citizen and grants
her opportunity to influence public choices
Mutations in PYCR1 cause cutis laxa with progeroid features.
Autosomal recessive cutis laxa (ARCL) describes a group of syndromal disorders that are often associated with a progeroid appearance, lax and wrinkled skin, osteopenia and mental retardation. Homozygosity mapping in several kindreds with ARCL identified a candidate region on chromosome 17q25. By high-throughput sequencing of the entire candidate region, we detected disease-causing mutations in the gene PYCR1. We found that the gene product, an enzyme involved in proline metabolism, localizes to mitochondria. Altered mitochondrial morphology, membrane potential and increased apoptosis rate upon oxidative stress were evident in fibroblasts from affected individuals. Knockdown of the orthologous genes in Xenopus and zebrafish led to epidermal hypoplasia and blistering that was accompanied by a massive increase of apoptosis. Our findings link mutations in PYCR1 to altered mitochondrial function and progeroid changes in connective tissues