Evidence for a Common Founder and Clinical Characteristics of Japanese Families with the MAPT R406W Mutation

Background/Aim: Mutations in MAPT cause frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17). Patients with the MAPT R406W mutation were reported to show phenotypic heterogeneity in different ethnic backgrounds. We here report the clinical and genetic characteristics of Japanese families with the R406W mutation. Methods: We examined the clinical and neuroimaging features of 6 patients from three families with the R406W mutation. We determined the genotypes of intragenic MAPT single-nucleotide polymorphisms (SNPs) and the flanking microsatellite markers to search for a common founder. Results: The initial symptom was memory loss with the average age at onset being 54 years. Anterograde amnesia with episodic memory impairment was the predominant phenotype. Behavioral and personality changes or parkinsonism is not a prominent feature. A brain MRI study revealed marked atrophy of the medial temporal lobe. Genetic analysis of SNPs and microsatellite markers revealed that the affected members of the three families share common genotypes. Conclusion: The findings of the affected members in this study, which corroborate previously reported findings of European families, suggest that the R406W mutation may represent a phenotype of predominant anterograde amnesia in FTLD-17. Our genetic data suggest that a founder effect may account for some families with the R406W mutation

Effects of radiation on spinal dura mater and surrounding tissue in mice

Purpose Spinal surgery in a previously irradiated field carries increased risk of perioperative complications, such as delayed wound healing or wound infection. In addition, adhesion around the dura mater is often observed clinically. Therefore, similar to radiation-induced fibrosis- a major late-stage radiation injury in other tissue-epidural fibrosis is anticipated to occur after spinal radiation. In this study, we performed histopathologic assessment of postirradiation changes in the spinal dura mater and peridural tissue in mice. Materials and Methods The thoracolumbar transition of ddY mice was irradiated with a single dose of 10 or 20 Gy. After resection of the irradiated spine, occurrence of epidural fibrosis and expression of transforming growth factor beta 1 in the spinal dura mater were evaluated. In addition, microstructures in the spinal dura mater and peridural tissue were assessed using an electron microscope. Results In the 20-Gy irradiated mice, epidural fibrosis first occurred around 12 weeks postirradiation, and was observed in all cases from 16 weeks postirradiation. In contrast, epidural fibrosis was not observed in the nonirradiated mice. Compared with the nonirradiated mice, the 10- and 20-Gy irradiated mice had significantly more overexpression of transforming growth factor beta 1 at 1 week postirradiation and in the late stages after irradiation. In microstructural assessment, the arachnoid barrier cell layer was thinned at 12 and 24 weeks postirradiation compared with that in the nonirradiated mice. Conclusion In mice, spinal epidural fibrosis develops in the late stages after high-dose irradiation, and overexpression of transforming growth factor beta 1 occurs in a manner similar to that seen in radiation-induced fibrosis in other tissue. Additionally, thinning of the arachnoid barrier cell layer was observed in the late stages after irradiation. Thus, consideration should be given to the possibility that these phenomena can occur as radiation-induced injuries of the spine. Copyright © 2015 Yokogawa et al

The E3 Ubiquitin Ligase Activity of Trip12 Is Essential for Mouse Embryogenesis

Protein ubiquitination is a post-translational protein modification that regulates many biological conditions [1], [2], [3], [4]. Trip12 is a HECT-type E3 ubiquitin ligase that ubiquitinates ARF and APP-BP1 [5], [6]. However, the significance of Trip12 in vivo is largely unknown. Here we show that the ubiquitin ligase activity of Trip12 is indispensable for mouse embryogenesis. A homozygous mutation in Trip12 (Trip12mt/mt) that disrupts the ubiquitin ligase activity resulted in embryonic lethality in the middle stage of development. Trip12mt/mt embryos exhibited growth arrest and increased expression of the negative cell cycle regulator p16 [7], [8], [9], [10]. In contrast, Trip12mt/mt ES cells were viable. They had decreased proliferation, but maintained both the undifferentiated state and the ability to differentiate. Trip12mt/mt ES cells had increased levels of the BAF57 protein (a component of the SWI/SNF chromatin remodeling complex) and altered gene expression patterns. These data suggest that Trip12 is involved in global gene expression and plays an important role in mouse development

Governing the energy : the dynamic of change in electricity policy from nuclear and renewable energies. A comparison between France and Japan

Une crise de grande ampleur laisse supposer d’importants changements en politiques publiques.Toutefois, les multiples accidents nucléaires ont souligné l’effet d’inertie du système de l’électricité en France comme au Japon et du maintien des acteurs dominants au sein de ce système. Le particulier focusing event que constitue Fukushima apparaît toutefois comme un vecteur important de changement dans un système fortement soumis à la dépendance au sentier et à un bouleversement des rapports de force,dépassant par là même les enjeux énergétiques. Au delà des questions de gouvernance de l’énergie, ce travail vise en outre à souligner les importantes transformations qui touchent le marché de l’électricité sous les effets d’une libéralisation toujours plus poussée. Dès lors cette analyse s’attache à fois à l’étude de la gouvernance de la politique de l’énergie mais également aux conséquences d’une ouverture plus progressive du marché sur les acteurs concernés dans une perspective principalement nationale mais aussi européenne.While a widespread crisis would cause significant changes in public policies, nuclear accidents underline an inertia effect in the energy system in France and Japan. These cases lay out the maintenance of the position of dominant stakeholders within the system. Nevertheless, the particular focusing event of Fukushima appears to be an important driver of change in a system with strong path dependency, and disrupts the power balance of stakeholders. The change then goes beyond energy issues. In addition to the governance stakes, this thesis examines the significant alterations of the electricity market under the liberalisation dynamics . It also analyses the governance of energy policy and the consequences of the electricity market from domestic and European perspectives

Governing the energy policy : the pursuit of nuclear energy through the « energy transition » notion in France

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Varieties of Energy: Convergence explaining Divergence. A Comparison between France and Japan », Section « Energy Policy, Politics and Governance », European Consortium for Political Research

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La transformation du marché de l’électricité par la gouvernance des gestionnaires de réseau ?

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Compte rendu de 'grande transformation du capitalisme japonais (1980-2010),' par Lechevalier, Sébastien, Paris, Presses de Sciences Po, 2011

1ères lignes : La Grande transformation du capitalisme japonais de Sébastien Lechevalier regroupe plusieurs contributeurs (dont R. Boyer, R. Dore, A. Nanta et Y. Tiberghien). L’ouvrage s’intéresse à la socio-économie japonaise d’un point de vue régulationniste, qui dépasse la dichotomie entre capitalisme de marché libéral et capitalisme de marché coordonné proposée par P. Hall et D. Soskice; L’enjeu de ce livre est ainsi de proposer, à partir de l’exemple japonais, une alternative à l’approche des variétés de capitalisme en s’intéressant aux changements institutionnels et organisationnels en lien avec le néo-libéralisme apparu dans les années 1970

Varieties of Energy: Convergence explaining Divergence. A Comparison between France and Japan », Section « Energy Policy, Politics and Governance », European Consortium for Political Research

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