113 research outputs found

    Molecular profiles of Quadriceps muscle in myostatin-null mice reveal PI3K and apoptotic pathways as myostatin targets

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    <p>Abstract</p> <p>Background</p> <p>Myostatin (MSTN), a member of the TGF-β superfamily, has been identified as a negative regulator of skeletal muscle mass. Inactivating mutations in the MSTN gene are responsible for the development of a hypermuscular phenotype. In this study, we performed transcriptomic and proteomic analyses to detect altered expression/abundance of genes and proteins. These differentially expressed genes and proteins may represent new molecular targets of MSTN and could be involved in the regulation of skeletal muscle mass.</p> <p>Results</p> <p>Transcriptomic analysis of the Quadriceps muscles of 5-week-old <it>MSTN</it>-null mice (n = 4) and their controls (n = 4) was carried out using microarray (human and murine oligonucleotide sequences) of 6,473 genes expressed in muscle. Proteomic profiles were analysed using two-dimensional gel electrophoresis coupled with mass spectrometry. Comparison of the transcriptomic profiles revealed 192 up- and 245 down- regulated genes. Genes involved in the PI3K pathway, insulin/IGF pathway, carbohydrate metabolism and apoptosis regulation were up-regulated. Genes belonging to canonical Wnt, calcium signalling pathways and cytokine-receptor cytokine interaction were down-regulated. Comparison of the protein profiles revealed 20 up- and 18 down-regulated proteins spots. Knockout of the MSTN gene was associated with up-regulation of proteins involved in glycolytic shift of the muscles and down-regulation of proteins involved in oxidative energy metabolism. In addition, an increased abundance of survival/anti-apoptotic factors were observed.</p> <p>Conclusion</p> <p>All together, these results showed a differential expression of genes and proteins related to the muscle energy metabolism and cell survival/anti-apoptotic pathway (e.g. DJ-1, PINK1, 14-3-3ε protein, TCTP/GSK-3β). They revealed the PI3K and apoptotic pathways as MSTN targets and are in favour of a role of MSTN as a modulator of cell survival in vivo.</p

    Invest Ophthalmol Vis Sci

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    PURPOSE. Albinism is a group of genetic disorders that includes several conditions related to a defect in melanin production. There is a broad phenotypic and genotypic variability between the different forms. The aim of this study was to assess the ophthalmologic characteristics according to patients' genotypes in a cohort followed in the Reference Center for oculocutaneous albinism (OCA) of Bordeaux University Hospital, France.METHODS. A retrospective observational study was conducted in a cohort of patients with OCA seen in consultation in the ophthalmology department between 2017 and 2021 in whom a genetic analysis was performed.RESULTS. In total, 127 patients with OCA were included in this study and matched with the results of the genetic analysis. In the population aged over 6 years, there was no statistical difference in binocular visual acuity between the OCA1, OCA2, and OCA4 forms (P = 0.27). There was difference in ametropia between the three forms (P = 0.003). A twoby-two comparison using the Bonferroni correction showed a significant difference in ametropia between the OCA2 and OCA4 forms (P = 0.007) and between the OCA1 and OCA2 forms (P = 0.0075). Regardless of the form, most patients (75.4%) had grade 4 foveal hypoplasia. There was no association between the grade of foveal hypoplasia and the gene involved (P = 0.87).CONCLUSIONS. We described a genotype-phenotype correlation for the three most represented forms of albinism in our cohort. This study allowed assessing the degree of visual deficiency in young children with OCA

    Co-limitation towards lower latitudes shapes global forest diversity gradients

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    Funding Information: The team collaboration and manuscript development are supported by the web-based team science platform: science-i.org, with the project number 202205GFB2. We thank the following initiatives, agencies, teams and individuals for data collection and other technical support: the Global Forest Biodiversity Initiative (GFBI) for establishing the data standards and collaborative framework; United States Department of Agriculture, Forest Service, Forest Inventory and Analysis (FIA) Program; University of Alaska Fairbanks; the SODEFOR, Ivory Coast; University Félix Houphouët-Boigny (UFHB, Ivory Coast); the Queensland Herbarium and past Queensland Government Forestry and Natural Resource Management departments and staff for data collection for over seven decades; and the National Forestry Commission of Mexico (CONAFOR). We thank M. Baker (Carbon Tanzania), together with a team of field assistants (Valentine and Lawrence); all persons who made the Third Spanish Forest Inventory possible, especially the main coordinator, J. A. Villanueva (IFN3); the French National Forest Inventory (NFI campaigns (raw data 2005 and following annual surveys, were downloaded by GFBI at https://inventaire-forestier.ign.fr/spip.php?rubrique159 ; site accessed on 1 January 2015)); the Italian Forest Inventory (NFI campaigns raw data 2005 and following surveys were downloaded by GFBI at https://inventarioforestale.org/ ; site accessed on 27 April 2019); Swiss National Forest Inventory, Swiss Federal Institute for Forest, Snow and Landscape Research WSL and Federal Office for the Environment FOEN, Switzerland; the Swedish NFI, Department of Forest Resource Management, Swedish University of Agricultural Sciences SLU; the National Research Foundation (NRF) of South Africa (89967 and 109244) and the South African Research Chair Initiative; the Danish National Forestry, Department of Geosciences and Natural Resource Management, UCPH; Coordination for the Improvement of Higher Education Personnel of Brazil (CAPES, grant number 88881.064976/2014-01); R. Ávila and S. van Tuylen, Instituto Nacional de Bosques (INAB), Guatemala, for facilitating Guatemalan data; the National Focal Center for Forest condition monitoring of Serbia (NFC), Institute of Forestry, Belgrade, Serbia; the Thünen Institute of Forest Ecosystems (Germany) for providing National Forest Inventory data; the FAO and the United Nations High Commissioner for Refugees (UNHCR) for undertaking the SAFE (Safe Access to Fuel and Energy) and CBIT-Forest projects; and the Amazon Forest Inventory Network (RAINFOR), the African Tropical Rainforest Observation Network (AfriTRON) and the ForestPlots.net initiative for their contributions from Amazonian and African forests. The Natural Forest plot data collected between January 2009 and March 2014 by the LUCAS programme for the New Zealand Ministry for the Environment are provided by the New Zealand National Vegetation Survey Databank https://nvs.landcareresearch.co.nz/. We thank the International Boreal Forest Research Association (IBFRA); the Forestry Corporation of New South Wales, Australia; the National Forest Directory of the Ministry of Environment and Sustainable Development of the Argentine Republic (MAyDS) for the plot data of the Second National Forest Inventory (INBN2); the National Forestry Authority and Ministry of Water and Environment of Uganda for their National Biomass Survey (NBS) dataset; and the Sabah Biodiversity Council and the staff from Sabah Forest Research Centre. All TEAM data are provided by the Tropical Ecology Assessment and Monitoring (TEAM) Network, a collaboration between Conservation International, the Missouri Botanical Garden, the Smithsonian Institution and the Wildlife Conservation Society, and partially funded by these institutions, the Gordon and Betty Moore Foundation and other donors, with thanks to all current and previous TEAM site manager and other collaborators that helped collect data. We thank the people of the Redidoti, Pierrekondre and Cassipora village who were instrumental in assisting with the collection of data and sharing local knowledge of their forest and the dedicated members of the field crew of Kabo 2012 census. We are also thankful to FAPESC, SFB, FAO and IMA/SC for supporting the IFFSC. This research was supported in part through computational resources provided by Information Technology at Purdue, West Lafayette, Indiana.This work is supported in part by the NASA grant number 12000401 ‘Multi-sensor biodiversity framework developed from bioacoustic and space based sensor platforms’ (J. Liang, B.P.); the USDA National Institute of Food and Agriculture McIntire Stennis projects 1017711 (J. Liang) and 1016676 (M.Z.); the US National Science Foundation Biological Integration Institutes grant NSF‐DBI‐2021898 (P.B.R.); the funding by H2020 VERIFY (contract 776810) and H2020 Resonate (contract 101000574) (G.-J.N.); the TEAM project in Uganda supported by the Moore foundation and Buffett Foundation through Conservation International (CI) and Wildlife Conservation Society (WCS); the Danish Council for Independent Research | Natural Sciences (TREECHANGE, grant 6108-00078B) and VILLUM FONDEN grant number 16549 (J.-C.S.); the Natural Environment Research Council of the UK (NERC) project NE/T011084/1 awarded to J.A.-G. and NE/ S011811/1; ERC Advanced Grant 291585 (‘T-FORCES’) and a Royal Society-Wolfson Research Merit Award (O.L.P.); RAINFOR plots supported by the Gordon and Betty Moore Foundation and the UK Natural Environment Research Council, notably NERC Consortium Grants ‘AMAZONICA’ (NE/F005806/1), ‘TROBIT’ (NE/D005590/1) and ‘BIO-RED’ (NE/N012542/1); CIFOR’s Global Comparative Study on REDD+ funded by the Norwegian Agency for Development Cooperation, the Australian Department of Foreign Affairs and Trade, the European Union, the International Climate Initiative (IKI) of the German Federal Ministry for the Environment, Nature Conservation, Building and Nuclear Safety and the CGIAR Research Program on Forests, Trees and Agroforestry (CRP-FTA) and donors to the CGIAR Fund; AfriTRON network plots funded by the local communities and NERC, ERC, European Union, Royal Society and Leverhume Trust; a grant from the Royal Society and the Natural Environment Research Council, UK (S.L.L.); National Science Foundation CIF21 DIBBs: EI: number 1724728 (A.C.C.); National Natural Science Foundation of China (31800374) and Shandong Provincial Natural Science Foundation (ZR2019BC083) (H.L.). UK NERC Independent Research Fellowship (grant code: NE/S01537X/1) (T.J.); a Serra-Húnter Fellowship provided by the Government of Catalonia (Spain) (S.d.-M.); the Brazilian National Council for Scientific and Technological Development (CNPq, grant 442640/2018-8, CNPq/Prevfogo-Ibama number 33/2018) (C.A.S.); a grant from the Franklinia Foundation (D.A.C.); Russian Science Foundation project number 19-77-300-12 (R.V.); the Takenaka Scholarship Foundation (A.O.A.); the German Research Foundation (DFG), grant number Am 149/16-4 (C.A.); the Romania National Council for Higher Education Funding, CNFIS, project number CNFIS-FDI-2022-0259 (O.B.); Natural Sciences and Engineering Research Council of Canada (RGPIN-2019-05109 and STPGP506284) and the Canadian Foundation for Innovation (36014) (H.Y.H.C.); the project SustES—Adaptation strategies for sustainable ecosystem services and food security under adverse environmental conditions (CZ.02.1.01/0.0/0.0/16_019/0000797) (E.C.); Consejo de Ciencia y Tecnología del estado de Durango (2019-01-155) (J.J.C.-R.); Science and Engineering Research Board (SERB), New Delhi, Government of India (file number PDF/2015/000447)—‘Assessing the carbon sequestration potential of different forest types in Central India in response to climate change ’ (J.A.D.); Investissement d’avenir grant of the ANR (CEBA: ANR-10-LABEX-0025) (G.D.); National Foundation for Science & Technology Development of Vietnam, 106-NN.06-2013.01 (T.V.D.); Queensland government, Department of Environment and Science (T.J.E.); a Czech Science Foundation Standard grant (19-14620S) (T.M.F.); European Union Seventh Framework Program (FP7/2007–2013) under grant agreement number 265171 (L. Finer, M. Pollastrini, F. Selvi); grants from the Swedish National Forest Inventory, Swedish University of Agricultural Sciences (J.F.); CNPq productivity grant number 311303/2020-0 (A.L.d.G.); DFG grant HE 2719/11-1,2,3; HE 2719/14-1 (A. Hemp); European Union’s Horizon Europe research project OpenEarthMonitor grant number 101059548, CGIAR Fund INIT-32-MItigation and Transformation Initiative for GHG reductions of Agrifood systems RelaTed Emissions (MITIGATE+) (M.H.); General Directorate of the State Forests, Poland (1/07; OR-2717/3/11; OR.271.3.3.2017) and the National Centre for Research and Development, Poland (BIOSTRATEG1/267755/4/NCBR/2015) (A.M.J.); Czech Science Foundation 18-10781 S (S.J.); Danish of Ministry of Environment, the Danish Environmental Protection Agency, Integrated Forest Monitoring Program—NFI (V.K.J.); State of São Paulo Research Foundation/FAPESP as part of the BIOTA/FAPESP Program Project Functional Gradient-PELD/BIOTA-ECOFOR 2003/12595-7 & 2012/51872-5 (C.A.J.); Danish Council for Independent Research—social sciences—grant DFF 6109–00296 (G.A.K.); Russian Science Foundation project 21-46-07002 for the plot data collected in the Krasnoyarsk region (V.K.); BOLFOR (D.K.K.); Department of Biotechnology, New Delhi, Government of India (grant number BT/PR7928/NDB/52/9/2006, dated 29 September 2006) (M.L.K.); grant from Kenya Coastal Development Project (KCDP), which was funded by World Bank (J.N.K.); Korea Forest Service (2018113A00-1820-BB01, 2013069A00-1819-AA03, and 2020185D10-2022-AA02) and Seoul National University Big Data Institute through the Data Science Research Project 2016 (H.S.K.); the Brazilian National Council for Scientific and Technological Development (CNPq, grant 442640/2018-8, CNPq/Prevfogo-Ibama number 33/2018) (C.K.); CSIR, New Delhi, government of India (grant number 38(1318)12/EMR-II, dated: 3 April 2012) (S.K.); Department of Biotechnology, New Delhi, government of India (grant number BT/ PR12899/ NDB/39/506/2015 dated 20 June 2017) (A.K.); Coordination for the Improvement of Higher Education Personnel (CAPES) #88887.463733/2019-00 (R.V.L.); National Natural Science Foundation of China (31800374) (H.L.); project of CEPF RAS ‘Methodological approaches to assessing the structural organization and functioning of forest ecosystems’ (AAAA-A18-118052590019-7) funded by the Ministry of Science and Higher Education of Russia (N.V.L.); Leverhulme Trust grant to Andrew Balmford, Simon Lewis and Jon Lovett (A.R.M.); Russian Science Foundation, project 19-77-30015 for European Russia data processing (O.M.); grant from Kenya Coastal Development Project (KCDP), which was funded by World Bank (M.T.E.M.); the National Centre for Research and Development, Poland (BIOSTRATEG1/267755/4/NCBR/2015) (S.M.); the Secretariat for Universities and of the Ministry of Business and Knowledge of the Government of Catalonia and the European Social Fund (A. Morera); Queensland government, Department of Environment and Science (V.J.N.); Pinnacle Group Cameroon PLC (L.N.N.); Queensland government, Department of Environment and Science (M.R.N.); the Natural Sciences and Engineering Research Council of Canada (RGPIN-2018-05201) (A.P.); the Russian Foundation for Basic Research, project number 20-05-00540 (E.I.P.); European Union’s Horizon 2020 research and innovation programme under the Marie Skłodowska-Curie grant agreement number 778322 (H.P.); Science and Engineering Research Board, New Delhi, government of India (grant number YSS/2015/000479, dated 12 January 2016) (P.S.); the Chilean Government research grants Fondecyt number 1191816 and FONDEF number ID19 10421 (C.S.-E.); the Deutsche Forschungsgemeinschaft (DFG) Priority Program 1374 Biodiversity Exploratories (P.S.); European Space Agency projects IFBN (4000114425/15/NL/FF/gp) and CCI Biomass (4000123662/18/I-NB) (D. Schepaschenko); FunDivEUROPE, European Union Seventh Framework Programme (FP7/2007–2013) under grant agreement number 265171 (M.S.-L.); APVV 20-0168 from the Slovak Research and Development Agency (V.S.); Manchester Metropolitan University’s Environmental Science Research Centre (G.S.); the project ‘LIFE+ ForBioSensing PL Comprehensive monitoring of stand dynamics in Białowieża Forest supported with remote sensing techniques’ which is co-funded by the EU Life Plus programme (contract number LIFE13 ENV/PL/000048) and the National Fund for Environmental Protection and Water Management in Poland (contract number 485/2014/WN10/OP-NM-LF/D) (K.J.S.); Global Challenges Research Fund (QR allocation, MMU) (M.J.P.S.); Czech Science Foundation project 21-27454S (M.S.); the Russian Foundation for Basic Research, project number 20-05-00540 (N. Tchebakova); Botanical Research Fund, Coalbourn Trust, Bentham Moxon Trust, Emily Holmes scholarship (L.A.T.); the programmes of the current scientific research of the Botanical Garden of the Ural Branch of Russian Academy of Sciences (V.A.U.); FCT—Portuguese Foundation for Science and Technology—Project UIDB/04033/2020. Inventário Florestal Nacional—ICNF (H. Viana); Grant from Kenya Coastal Development Project (KCDP), which was funded by World Bank (C.W.); grants from the Swedish National Forest Inventory, Swedish University of Agricultural Sciences (B.W.); ATTO project (grant number MCTI-FINEP 1759/10 and BMBF 01LB1001A, 01LK1602F) (F.W.); ReVaTene/PReSeD-CI 2 is funded by the Education and Research Ministry of Côte d’Ivoire, as part of the Debt Reduction-Development Contracts (C2Ds) managed by IRD (I.C.Z.-B.); the National Research Foundation of South Africa (NRF, grant 89967) (C.H.). The Tropical Plant Exploration Group 70 1 ha plots in Continental Cameroon Mountains are supported by Rufford Small Grant Foundation, UK and 4 ha in Sierra Leone are supported by the Global Challenge Research Fund through Manchester Metropolitan University, UK; the National Geographic Explorer Grant, NGS-53344R-18 (A.C.-S.); University of KwaZulu-Natal Research Office grant (M.J.L.); Universidad Nacional Autónoma de México, Dirección General de Asuntos de Personal Académico, Grant PAPIIT IN-217620 (J.A.M.). Czech Science Foundation project 21-24186M (R.T., S. Delabye). Czech Science Foundation project 20-05840Y, the Czech Ministry of Education, Youth and Sports (LTAUSA19137) and the long-term research development project of the Czech Academy of Sciences no. RVO 67985939 (J.A.). The American Society of Primatologists, the Duke University Graduate School, the L.S.B. Leakey Foundation, the National Science Foundation (grant number 0452995) and the Wenner-Gren Foundation for Anthropological Research (grant number 7330) (M.B.). Research grants from Conselho Nacional de Desenvolvimento Científico e Tecnologico (CNPq, Brazil) (309764/2019; 311303/2020) (A.C.V., A.L.G.). The Project of Sanya Yazhou Bay Science and Technology City (grant number CKJ-JYRC-2022-83) (H.-F.W.). The Ugandan NBS was supported with funds from the Forest Carbon Partnership Facility (FCPF), the Austrian Development Agency (ADC) and FAO. FAO’s UN-REDD Program, together with the project on ‘Native Forests and Community’ Loan BIRF number 8493-AR UNDP ARG/15/004 and the National Program for the Protection of Native Forests under UNDP funded Argentina’s INBN2. Publisher Copyright: © 2022, The Author(s), under exclusive licence to Springer Nature Limited.Peer reviewedPostprin

    Adaptation of Mouse Skeletal Muscle to Long-Term Microgravity in the MDS Mission

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    The effect of microgravity on skeletal muscles has so far been examined in rat and mice only after short-term (5–20 day) spaceflights. The mice drawer system (MDS) program, sponsored by Italian Space Agency, for the first time aimed to investigate the consequences of long-term (91 days) exposure to microgravity in mice within the International Space Station. Muscle atrophy was present indistinctly in all fiber types of the slow-twitch soleus muscle, but was only slightly greater than that observed after 20 days of spaceflight. Myosin heavy chain analysis indicated a concomitant slow-to-fast transition of soleus. In addition, spaceflight induced translocation of sarcolemmal nitric oxide synthase-1 (NOS1) into the cytosol in soleus but not in the fast-twitch extensor digitorum longus (EDL) muscle. Most of the sarcolemmal ion channel subunits were up-regulated, more in soleus than EDL, whereas Ca2+-activated K+ channels were down-regulated, consistent with the phenotype transition. Gene expression of the atrophy-related ubiquitin-ligases was up-regulated in both spaceflown soleus and EDL muscles, whereas autophagy genes were in the control range. Muscle-specific IGF-1 and interleukin-6 were down-regulated in soleus but up-regulated in EDL. Also, various stress-related genes were up-regulated in spaceflown EDL, not in soleus. Altogether, these results suggest that EDL muscle may resist to microgravity-induced atrophy by activating compensatory and protective pathways. Our study shows the extended sensitivity of antigravity soleus muscle after prolonged exposition to microgravity, suggests possible mechanisms accounting for the resistance of EDL, and individuates some molecular targets for the development of countermeasures

    The number of tree species on Earth

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    One of the most fundamental questions in ecology is how many species inhabit the Earth. However, due to massive logistical and financial challenges and taxonomic difficulties connected to the species concept definition, the global numbers of species, including those of important and well-studied life forms such as trees, still remain largely unknown. Here, based on global groundsourced data, we estimate the total tree species richness at global, continental, and biome levels. Our results indicate that there are 73,000 tree species globally, among which ∼9,000 tree species are yet to be discovered. Roughly 40% of undiscovered tree species are in South America. Moreover, almost one-third of all tree species to be discovered may be rare, with very low populations and limited spatial distribution (likely in remote tropical lowlands and mountains). These findings highlight the vulnerability of global forest biodiversity to anthropogenic changes in land use and climate, which disproportionately threaten rare species and thus, global tree richness

    The number of tree species on Earth.

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    One of the most fundamental questions in ecology is how many species inhabit the Earth. However, due to massive logistical and financial challenges and taxonomic difficulties connected to the species concept definition, the global numbers of species, including those of important and well-studied life forms such as trees, still remain largely unknown. Here, based on global ground-sourced data, we estimate the total tree species richness at global, continental, and biome levels. Our results indicate that there are ∼73,000 tree species globally, among which ∼9,000 tree species are yet to be discovered. Roughly 40% of undiscovered tree species are in South America. Moreover, almost one-third of all tree species to be discovered may be rare, with very low populations and limited spatial distribution (likely in remote tropical lowlands and mountains). These findings highlight the vulnerability of global forest biodiversity to anthropogenic changes in land use and climate, which disproportionately threaten rare species and thus, global tree richness

    ARIA digital anamorphosis : Digital transformation of health and care in airway diseases from research to practice

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    Digital anamorphosis is used to define a distorted image of health and care that may be viewed correctly using digital tools and strategies. MASK digital anamorphosis represents the process used by MASK to develop the digital transformation of health and care in rhinitis. It strengthens the ARIA change management strategy in the prevention and management of airway disease. The MASK strategy is based on validated digital tools. Using the MASK digital tool and the CARAT online enhanced clinical framework, solutions for practical steps of digital enhancement of care are proposed.Peer reviewe

    Evenness mediates the global relationship between forest productivity and richness

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    1. Biodiversity is an important component of natural ecosystems, with higher species richness often correlating with an increase in ecosystem productivity. Yet, this relationship varies substantially across environments, typically becoming less pronounced at high levels of species richness. However, species richness alone cannot reflect all important properties of a community, including community evenness, which may mediate the relationship between biodiversity and productivity. If the evenness of a community correlates negatively with richness across forests globally, then a greater number of species may not always increase overall diversity and productivity of the system. Theoretical work and local empirical studies have shown that the effect of evenness on ecosystem functioning may be especially strong at high richness levels, yet the consistency of this remains untested at a global scale. 2. Here, we used a dataset of forests from across the globe, which includes composition, biomass accumulation and net primary productivity, to explore whether productivity correlates with community evenness and richness in a way that evenness appears to buffer the effect of richness. Specifically, we evaluated whether low levels of evenness in speciose communities correlate with the attenuation of the richness–productivity relationship. 3. We found that tree species richness and evenness are negatively correlated across forests globally, with highly speciose forests typically comprising a few dominant and many rare species. Furthermore, we found that the correlation between diversity and productivity changes with evenness: at low richness, uneven communities are more productive, while at high richness, even communities are more productive. 4. Synthesis. Collectively, these results demonstrate that evenness is an integral component of the relationship between biodiversity and productivity, and that the attenuating effect of richness on forest productivity might be partly explained by low evenness in speciose communities. Productivity generally increases with species richness, until reduced evenness limits the overall increases in community diversity. Our research suggests that evenness is a fundamental component of biodiversity–ecosystem function relationships, and is of critical importance for guiding conservation and sustainable ecosystem management decisions

    Author Correction: Native diversity buffers against severity of non-native tree invasions.

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