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2. ForMAX -- a beamline for multiscale and multimodal structural characterization of hierarchical materials

Author

Nygård, K., McDonald, S. A., González, J. B., Haghighat, V., Appel, C., Larsson, E., Ghanbari, R., Viljanen, M., Silva, J., Malki, S., Li, Y., Silva, V., Weninger, C., Engelmann, F., Jeppsson, T., Felcsuti, G., Rosén, T., Gordeyeva, K., Söderberg, L. D., Dierks, H., Zhang, Y., Yao, Z., Yang, R., Asimakopoulou, E. M., Rogalinski, J. K., Wallentin, J., Villanueva-Perez, P., Krüger, R., Dreier, T., Bech, M., Liebi, M., Bek, M., Kádár, R., Terry, A. E., Tarawneh, H., Ilinski, P., Malmqvist, J., and Cerenius, Y.

Subjects
Physics - Instrumentation and Detectors
Abstract

The ForMAX beamline at the MAX IV Laboratory provides multiscale and multimodal structural characterization of hierarchical materials in the nm to mm range by combining small- and wide-angle x-ray scattering with full-field microtomography. The modular design of the beamline is optimized for easy switching between different experimental modalities. The beamline has a special focus on the development of novel, fibrous materials from forest resources, but it is also well suited for studies within, e.g., food science and biomedical research., Comment: Accepted for publication in J. Synchrotron Rad

Published
2023

4. Education as Risk Factor of Mild Cognitive Impairment: The Link to the Gut Microbiome

Author

Klee, Matthias, Aho, V. T. E., May, P., Heintz-Buschart, A., Landoulsi, Z., Jónsdóttir, S. R., Pauly, C., Pavelka, L., Delacour, L., Kaysen, A., Krüger, R., Wilmes, P., Leist, A. K., Acharya, Geeta, Aguayo, Gloria, Alexandre, Myriam, Ali, Muhammad, Ammerlann, Wim, Arena, Giuseppe, Bassis, Michele, Batutu, Roxane, Beaumont, Katy, Béchet, Sibylle, Berchem, Guy, Bisdorff, Alexandre, Boussaad, Ibrahim, Bouvier, David, Castillo, Lorieza, Contesotto, Gessica, De Bremaeker, Nancy, Dewitt, Brian, Diederich, Nico, Dondelinger, Rene, Ramia, Nancy E, Ferrari, Angelo, Frauenknecht, Katrin, Fritz, Joëlle, Gamio, Carlos, Gantenbein, Manon, Gawron, Piotr, Georges, Laura, Ghosh, Soumyabrata, Giraitis, Marijus, Glaab, Enrico, Goergen, Martine, Gómez De Lope, Elisa, Graas, Jérôme, Graziano, Mariella, Groues, Valentin, Grünewald, Anne, Hammot, Gaël, Hanff, Anne-Marie, Hansen, Linda, Heneka, Michael, Henry, Estelle, Henry, Margaux, Herbrink, Sylvia, Herzinger, Sascha, Hundt, Alexander, Jacoby, Nadine, Jónsdóttir, Sonja, Klucken, Jochen, Kofanova, Olga, Krüger, Rejko, Lambert, Pauline, Landoulsi, Zied, Lentz, Roseline, Longhino, Laura, Lopes, Ana Festas, Lorentz, Victoria, Marques, Tainá M., Marques, Guilherme, Martins Conde, Patricia, May, Patrick, Mcintyre, Deborah, Mediouni, Chouaib, Meisch, Francoise, Mendibide, Alexia, Menster, Myriam, Minelli, Maura, Mittelbronn, Michel, Mtimet, Saïda, Munsch, Maeva, Nati, Romain, Nehrbass, Ulf, Nickels, Sarah, Nicolai, Beatrice, Nicolay, Jean-Paul, Noor, Fozia, Gomes, Clarissa P. C., Pachchek, Sinthuja, Pauly, Claire, Pauly, Laure, Pavelka, Lukas, Perquin, Magali, Pexaras, Achilleas, Rauschenberger, Armin, Rawal, Rajesh, Reddy Bobbili, Dheeraj, Remark, Lucie, Richard, Ilsé, Roland, Olivia, Roomp, Kirsten, Rosales, Eduardo, Sapienza, Stefano, Satagopam, Venkata, Schmitz, Sabine, Schneider, Reinhard, Schwamborn, Jens, Severino, Raquel, Sharify, Amir, Soare, Ruxandra, Soboleva, Ekaterina, Sokolowska, Kate, Theresine, Maud, Thien, Hermann, Thiry, Elodie, Ting Jiin Loo, Rebecca, Trouet, Johanna, Tsurkalenko, Olena, Vaillant, Michel, Vega, Carlos, Vilas Boas, Liliana, Wilmes, Paul, Wollscheid-Lengeling, Evi, and Zelimkhanov, Gelani

Published
2024
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11. Genomic and taxonomic characterization of the Comamonassp. nov., a bacterium isolated from Brazilian Cerrado soil

Author

Frederico, T. D., Cunha-Ferreira, I. C., Vizzotto, C. S., de Sousa, J. F., Portugal, M. M., Tótola, M. R., Krüger, R. H., and Peixoto, J.

Abstract

A novel strain identified as Comamonassp. was isolated from the soil of the Brazilian savanna-like Cerrado biome, a global hotspot for biodiversity. Phylogenetic analysis based on 16 S rRNA gene sequences showed that this strain is classified as Betaproteobacteriafrom the family Comamonadaceae. The digital DNA-DNA hybridization (dDDH) and Average Nucleotide Identity (ANI) results, of respectively 48.6% and < 93%, indicated that Comamonassp. consists in a new species with Comamonas testosteronias its closest strain. Comamonassp. is a Gram-negative, rod-shaped, and non-spore-forming bacterium. Its colonies typically exhibit a round, convex, and irregular shape with a clear color and spotted edges. It is characterized as non-fermenting, aerobic, and motile, presenting both oxidase and catalase activities. The optimal growth parameters for this bacterial strain are 30 °C, a pH range of 5–8, and 0% NaCl. In addition, its fatty acid profile included palmitic acid (C16:0) at 26.94%, 13-Methyltetradecanoic Acid (iso-C15:0) at 10.94%, myristic acid (C14:0) at 8.94%, and a summed feature comprising 16:1 ω7c, 16:1 ω6c, or 16:1 at 15.8%. Genomic analysis of Comamonassp. revealed a GC content of 62.1% across its 5.6 Mb genome. Phylogenomic and pangenome analyses, along with in silicophenotypic characterization indicate that this strain represents a novel species within the Comamonasgenus, which we propose to name Comamonas brasiliensisnov.

Published
2025
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15. Variant‐specific effects of GBA1 mutations on dopaminergic neuron proteostasis.

Author

Onal, G., Yalçın‐Çakmaklı, G., Özçelik, C. E., Boussaad, I., Şeker, U. Ö. Ş., Fernandes, Hugo J. R., Demir, H., Krüger, R., Elibol, B., Dökmeci, S., and Salman, M. M.

Subjects
INDUCED pluripotent stem cells, PARKINSON'S disease, DOPAMINERGIC neurons, PROTEOLYSIS, ENDOPLASMIC reticulum, CELL fusion
Abstract

Glucocerebrosidase 1 (GBA1) mutations are the most important genetic risk factors for Parkinson's disease (PD). Clinically, mild (e.g., p.N370S) and severe (e.g., p.L444P and p.D409H) GBA1 mutations have different PD phenotypes, with differences in age at disease onset, progression, and the severity of motor and non‐motor symptoms. We hypothesize that GBA1 mutations cause the accumulation of α‐synuclein by affecting the cross‐talk between cellular protein degradation mechanisms, leading to neurodegeneration. Accordingly, we tested whether mild and severe GBA1 mutations differentially affect the degradation of α‐synuclein via the ubiquitin–proteasome system (UPS), chaperone‐mediated autophagy (CMA), and macroautophagy and differentially cause accumulation and/or release of α‐synuclein. Our results demonstrate that endoplasmic reticulum (ER) stress and total ubiquitination rates were significantly increased in cells with severe GBA1 mutations. CMA was found to be defective in induced pluripotent stem cell (iPSC)‐derived dopaminergic neurons with mild GBA1 mutations, but not in those with severe GBA1 mutations. When examining macroautophagy, we observed reduced formation of autophagosomes in cells with the N370S and D409H GBA1 mutations and impairments in autophagosome–lysosome fusion in cells with the L444P GBA1 mutation. Accordingly, severe GBA1 mutations were found to trigger the accumulation and release of oligomeric α‐synuclein in iPSC‐derived dopaminergic neurons, primarily as a result of increased ER stress and defective macroautophagy, while mild GBA1 mutations affected CMA, which is mainly responsible for the degradation of the monomeric form of α‐synuclein. Overall, our findings provide new insight into the molecular basis of the clinical variability in PD associated with different GBA1 mutations. [ABSTRACT FROM AUTHOR]

Published
2024
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26. Genomic and physiological characterization of Kitasatosporasp. nov., an actinobacterium with potential for biotechnological application isolated from Cerrado soil

Author

Cunha-Ferreira, I. C., Vizzotto, C. S., Freitas, M. A. M., Peixoto, J., Carvalho, L. S., Tótola, M. R., Thompson, F. L., and Krüger, R. H.

Abstract

An Actinobacteria– Kitasatosporasp. K002 – was isolated from the soil of Cerrado, a savanna-like Brazilian biome. Herein, we conducted a phylogenetic, phenotypic and physiological characterization, revealing its potential for biotechnological applications. Kitasatosporasp. K002 is an aerobic, non-motile, Gram-positive bacteria that forms grayish-white mycelium on solid cultures and submerged spores with vegetative mycelia on liquid cultures. The strain showed antibacterial activity against Bacillus subtilis, Pseudomonas aeruginosaand Escherichia coli. Genomic analysis indicated that Kitasatospora xanthocidicaJCM 4862 is the closest strain to K002, with a dDDH of 32.8–37.8% and an ANI of 86.86% and the pangenome investigations identified a high number of rare genes. A total of 60 gene clusters of 22 different types were detected by AntiSMASH, and 22 gene clusters showed low similarity (< 10%) with known compounds, which suggests the potential production of novel bioactive compounds. In addition, phylogenetic analysis and morphophysiological characterization clearly distinguished Kitasatosporasp. K002 from other related species. Therefore, we propose that Kitasatosporasp. K002 should be recognized as a new species of the genus Kitasatospora– Kitasatospora brasiliensissp. nov. (type strains = K002).

Published
2024
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27. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Author

Vollstedt, E.-J. Schaake, S. Lohmann, K. Padmanabhan, S. Brice, A. Lesage, S. Tesson, C. Vidailhet, M. Wurster, I. Hentati, F. Mirelman, A. Giladi, N. Marder, K. Waters, C. Fahn, S. Kasten, M. Brüggemann, N. Borsche, M. Foroud, T. Tolosa, E. Garrido, A. Annesi, G. Gagliardi, M. Bozi, M. Stefanis, L. Ferreira, J.J. Correia Guedes, L. Avenali, M. Petrucci, S. Clark, L. Fedotova, E.Y. Abramycheva, N.Y. Alvarez, V. Menéndez-González, M. Jesús Maestre, S. Gómez-Garre, P. Mir, P. Belin, A.C. Ran, C. Lin, C.-H. Kuo, M.-C. Crosiers, D. Wszolek, Z.K. Ross, O.A. Jankovic, J. Nishioka, K. Funayama, M. Clarimon, J. Williams-Gray, C.H. Camacho, M. Cornejo-Olivas, M. Torres-Ramirez, L. Wu, Y.-R. Lee-Chen, G.-J. Morgadinho, A. Pulkes, T. Termsarasab, P. Berg, D. Kuhlenbäumer, G. Kühn, A.A. Borngräber, F. de Michele, G. De Rosa, A. Zimprich, A. Puschmann, A. Mellick, G.D. Dorszewska, J. Carr, J. Ferese, R. Gambardella, S. Chase, B. Markopoulou, K. Satake, W. Toda, T. Rossi, M. Merello, M. Lynch, T. Olszewska, D.A. Lim, S.-Y. Ahmad-Annuar, A. Tan, A.H. Al-Mubarak, B. Hanagasi, H. Koziorowski, D. Ertan, S. Genç, G. de Carvalho Aguiar, P. Barkhuizen, M. Pimentel, M.M.G. Saunders-Pullman, R. van de Warrenburg, B. Bressman, S. Toft, M. Appel-Cresswell, S. Lang, A.E. Skorvanek, M. Boon, A.J.W. Krüger, R. Sammler, E.M. Tumas, V. Zhang, B.-R. Garraux, G. Chung, S.J. Kim, Y.J. Winkelmann, J. Sue, C.M. Tan, E.-K. Damásio, J. Klivényi, P. Kostic, V.S. Arkadir, D. Martikainen, M. Borges, V. Hertz, J.M. Brighina, L. Spitz, M. Suchowersky, O. Riess, O. Das, P. Mollenhauer, B. Gatto, E.M. Petersen, M.S. Hattori, N. Wu, R.-M. Illarioshkin, S.N. Valente, E.M. Aasly, J.O. Aasly, A. Alcalay, R.N. Thaler, A. Farrer, M.J. Brockmann, K. Corvol, J.-C. Klein, C. Aasly, A. Aasly, J.O. Abramycheva, N.Y. Ahmad-Annuar, A. Albanese, A. Alcalay, R.N. Aldakheel, A. Alkhairallah, T. Al-Mubarak, B. Al-tassan, N. Alvarez, V. Amami, P. Annesi, G. Appel-Cresswell, S. Leite, M.A.A. Arkadir, D. Avenali, M. Ferraz, H.B. and Vollstedt, E.-J. Schaake, S. Lohmann, K. Padmanabhan, S. Brice, A. Lesage, S. Tesson, C. Vidailhet, M. Wurster, I. Hentati, F. Mirelman, A. Giladi, N. Marder, K. Waters, C. Fahn, S. Kasten, M. Brüggemann, N. Borsche, M. Foroud, T. Tolosa, E. Garrido, A. Annesi, G. Gagliardi, M. Bozi, M. Stefanis, L. Ferreira, J.J. Correia Guedes, L. Avenali, M. Petrucci, S. Clark, L. Fedotova, E.Y. Abramycheva, N.Y. Alvarez, V. Menéndez-González, M. Jesús Maestre, S. Gómez-Garre, P. Mir, P. Belin, A.C. Ran, C. Lin, C.-H. Kuo, M.-C. Crosiers, D. Wszolek, Z.K. Ross, O.A. Jankovic, J. Nishioka, K. Funayama, M. Clarimon, J. Williams-Gray, C.H. Camacho, M. Cornejo-Olivas, M. Torres-Ramirez, L. Wu, Y.-R. Lee-Chen, G.-J. Morgadinho, A. Pulkes, T. Termsarasab, P. Berg, D. Kuhlenbäumer, G. Kühn, A.A. Borngräber, F. de Michele, G. De Rosa, A. Zimprich, A. Puschmann, A. Mellick, G.D. Dorszewska, J. Carr, J. Ferese, R. Gambardella, S. Chase, B. Markopoulou, K. Satake, W. Toda, T. Rossi, M. Merello, M. Lynch, T. Olszewska, D.A. Lim, S.-Y. Ahmad-Annuar, A. Tan, A.H. Al-Mubarak, B. Hanagasi, H. Koziorowski, D. Ertan, S. Genç, G. de Carvalho Aguiar, P. Barkhuizen, M. Pimentel, M.M.G. Saunders-Pullman, R. van de Warrenburg, B. Bressman, S. Toft, M. Appel-Cresswell, S. Lang, A.E. Skorvanek, M. Boon, A.J.W. Krüger, R. Sammler, E.M. Tumas, V. Zhang, B.-R. Garraux, G. Chung, S.J. Kim, Y.J. Winkelmann, J. Sue, C.M. Tan, E.-K. Damásio, J. Klivényi, P. Kostic, V.S. Arkadir, D. Martikainen, M. Borges, V. Hertz, J.M. Brighina, L. Spitz, M. Suchowersky, O. Riess, O. Das, P. Mollenhauer, B. Gatto, E.M. Petersen, M.S. Hattori, N. Wu, R.-M. Illarioshkin, S.N. Valente, E.M. Aasly, J.O. Aasly, A. Alcalay, R.N. Thaler, A. Farrer, M.J. Brockmann, K. Corvol, J.-C. Klein, C. Aasly, A. Aasly, J.O. Abramycheva, N.Y. Ahmad-Annuar, A. Albanese, A. Alcalay, R.N. Aldakheel, A. Alkhairallah, T. Al-Mubarak, B. Al-tassan, N. Alvarez, V. Amami, P. Annesi, G. Appel-Cresswell, S. Leite, M.A.A. Arkadir, D. Avenali, M. Ferraz, H.B.

Abstract

Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objective: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. Methods: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype–phenotype relationships were analyzed. Results: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. Conclusions: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view to

Published
2023

28. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Author

Vollstedt, E.J., Schaake, S., Lohmann, K., Padmanabhan, S., Brice, A., Lesage, S., Tesson, C., Vidailhet, M., Wurster, I., Hentati, F., Mirelman, A., Giladi, N., Marder, K., Waters, C., Fahn, S., Kasten, M., Brüggemann, N., Borsche, M., Foroud, T., Tolosa, E., Garrido, A., Annesi, G., Gagliardi, M., Bozi, M., Stefanis, L., Ferreira, J.J., Guedes, L. Correia, Avenali, M., Petrucci, S., Clark, L., Fedotova, E.Y., Abramycheva, N.Y., Alvarez, V., Menéndez-González, M., Maestre, S. Jesús, Gómez-Garre, P., Mir, P., Belin, A.C., Ran, C., Lin, Chih-Yu, Kuo, M.C., Crosiers, D., Wszolek, Z.K., Ross, O.A., Jankovic, J., Nishioka, K., Funayama, M., Clarimon, J., Williams-Gray, C.H., Camacho, M., Cornejo-Olivas, M., Torres-Ramirez, L., Wu, Y.R., Lee-Chen, G.J., Morgadinho, A., Pulkes, T., Termsarasab, P., Berg, D., Kuhlenbäumer, G., Kühn, A.A., Borngräber, F., Michele, G. de, Rosa, A. De, Zimprich, A., Puschmann, A., Mellick, G.D., Dorszewska, J., Carr, J., Ferese, R., Gambardella, S., Chase, B., Markopoulou, K., Satake, W., Toda, T., Rossi, M., Merello, M., Lynch, T., Olszewska, D.A., Lim, S.Y., Ahmad-Annuar, A., Tan, A.H., Al-Mubarak, B., Hanagasi, H., Koziorowski, D., Ertan, S., Genç, G., Aguiar, P. de Carvalho, Barkhuizen, M., Pimentel, M.M.G., Saunders-Pullman, R., Warrenburg, B.P.C. van de, Bressman, S., Toft, M., Appel-Cresswell, S., Lang, A.E., Skorvanek, M., Boon, A.J., Krüger, R., Sammler, E.M., Tumas, V., et al., Vollstedt, E.J., Schaake, S., Lohmann, K., Padmanabhan, S., Brice, A., Lesage, S., Tesson, C., Vidailhet, M., Wurster, I., Hentati, F., Mirelman, A., Giladi, N., Marder, K., Waters, C., Fahn, S., Kasten, M., Brüggemann, N., Borsche, M., Foroud, T., Tolosa, E., Garrido, A., Annesi, G., Gagliardi, M., Bozi, M., Stefanis, L., Ferreira, J.J., Guedes, L. Correia, Avenali, M., Petrucci, S., Clark, L., Fedotova, E.Y., Abramycheva, N.Y., Alvarez, V., Menéndez-González, M., Maestre, S. Jesús, Gómez-Garre, P., Mir, P., Belin, A.C., Ran, C., Lin, Chih-Yu, Kuo, M.C., Crosiers, D., Wszolek, Z.K., Ross, O.A., Jankovic, J., Nishioka, K., Funayama, M., Clarimon, J., Williams-Gray, C.H., Camacho, M., Cornejo-Olivas, M., Torres-Ramirez, L., Wu, Y.R., Lee-Chen, G.J., Morgadinho, A., Pulkes, T., Termsarasab, P., Berg, D., Kuhlenbäumer, G., Kühn, A.A., Borngräber, F., Michele, G. de, Rosa, A. De, Zimprich, A., Puschmann, A., Mellick, G.D., Dorszewska, J., Carr, J., Ferese, R., Gambardella, S., Chase, B., Markopoulou, K., Satake, W., Toda, T., Rossi, M., Merello, M., Lynch, T., Olszewska, D.A., Lim, S.Y., Ahmad-Annuar, A., Tan, A.H., Al-Mubarak, B., Hanagasi, H., Koziorowski, D., Ertan, S., Genç, G., Aguiar, P. de Carvalho, Barkhuizen, M., Pimentel, M.M.G., Saunders-Pullman, R., Warrenburg, B.P.C. van de, Bressman, S., Toft, M., Appel-Cresswell, S., Lang, A.E., Skorvanek, M., Boon, A.J., Krüger, R., Sammler, E.M., and Tumas, V., et al.

Abstract

Item does not contain fulltext, BACKGROUND: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. OBJECTIVE: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. METHODS: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype-phenotype relationships were analyzed. RESULTS: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. CONCLUSIONS: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward

Published
2023

29. Methanol Synthesis from CO2 and H2O Using a Solid Phosphate Electrolyzer at 240 °C and 28 Bar

Author

Christensen, E., Berg, R. W., Krüger, R., Bjerrum, N. J., Christensen, E., Berg, R. W., Krüger, R., and Bjerrum, N. J.

Abstract

It has been demonstrated that it is possible to produce methanol in one step in reasonable amounts by electrolysis of CO2 and H2O gasses dissolved under 28 bar and at 240 °C in contact with an electrolyte consisting of solid CsH2PO4 with additions of polyvinyl butyral (PVB) acting as a binder. The cathode was designed as a sandwich with a layer of a copper methanol catalyst and a porous platinum electrode. The anode consisted of porous ruthenium metal covered by a layer of RuO2. The system was operated with current densities of up to ca. 100 mA cm−2 with a voltage of less than 2 volts producing methanol with a Faradaic efficiency of up to ca. 7%. There seems to be nothing against recirculating the rest of reactant gases to improve the conversion. The question is of course whether the present approach can compete with a more traditional conversion starting with electrochemical produced hydrogen.

Published
2023

30. Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD cohort

Author

Ertan, Fatoş Sibel (ORCID 0000-0003-1339-243X & YÖK ID 112829), Vollstedt, E.J.; Schaake, S.; Lohmann, K.; Padmanabhan, S.; Brice, A.; Lesage, S.; Tesson, C.; Vidailhet, M.; Wurster, I.; Hentati, F.; Mirelman, A.; Giladi, N.; Marder, K.; Waters, C.; Fahn, S.; Kasten, M.; Brüggemann, N.; Borsche, M.; Foroud, T.; Tolosa, E.; Garrido, A.; Annesi, G.; Gagliardi, M.; Bozi, M.; Stefanis, L.; Ferreira, J.J.; Guedes, L.C.; Avenali, M.; Petrucci, S.; Clark, L.; Fedotova, E.Y.; Abramycheva, N.Y.; Alvarez, V.; Menéndez-González, M.; Maestre, SJ.; Gómez-Garre, P.; Mir, P.; Belin, A.C.; Ran, C.; Lin, C.H.; Kuo, M.C.; Crosiers, D.; Wszolek, Z.K.; Ross, O.A.; Jankovic, J.; Nishioka, K.; Funayama, M.; Clarimon, J.; Williams-Gray, C.H.; Camacho, M.; Cornejo-Olivas, M.; Torres-Ramirez, L.; Wu, YR.; Lee-Chen, G.J.; Morgadinho, A.; Pulkes, T.; Termsarasab, P.; Berg, D.; Kuhlenbäumer, G.; Kühn, A.A.; Borngräber, F.; de Michele, G.; De Rosa, A.; Zimprich, A.; Puschmann, A.; Mellick, GD.; Dorszewska, J.; Carr, J.; Ferese, R.; Gambardella, S.; Chase, B.; Markopoulou, K.; Satake, W.; Toda, T.; Rossi, M.; Merello, M.; Lynch, T.; Olszewska, D.A.; Lim, S.Y.; Ahmad-Annuar, A.; Tan, A.H.; Al-Mubarak, B.; Hanagasi, H.; Koziorowski, D.; Genç, G.; Aguiar, P.D.; Barkhuizen, M.; Pimentel, M.M.G.; Saunders-Pullman, R.; van de Warrenburg, B.; Bressman, S.; Toft, M.; Appel-Cresswell, S.; Lang, A.E.; Skorvanek, M.; Boon, A.J.W.; Krüger, R.; Sammler, E.M.; Tumas, V.; Zhang, B.R.; Garraux, G.; Chung, SJ.; Kim, Y.J.; Winkelmann, J.; Sue, C.M.; Tan, E.K.; Damásio, J.; Klivényi, P.; Kostic, V.S.; Arkadir, D.; Martikainen, M.; Borges, V.; Hertz, J.M.; Brighina, L.; Spitz, M.; Suchowersky, O.; Riess, O.; Das, P.; Mollenhauer, B.; Gatto, E.M.; Petersen, M.S.; Hattori, N.; Wu, R.M.; Illarioshkin, S.N.; Valente, E.M.; Aasly, J.O.; Aasly, A.; Alcalay, R.N.; Thaler, A.; Farrer, M.J.; Brockmann, K.; Corvol, J.C.; Klein, C., School of Medicine, Ertan, Fatoş Sibel (ORCID 0000-0003-1339-243X & YÖK ID 112829), Vollstedt, E.J.; Schaake, S.; Lohmann, K.; Padmanabhan, S.; Brice, A.; Lesage, S.; Tesson, C.; Vidailhet, M.; Wurster, I.; Hentati, F.; Mirelman, A.; Giladi, N.; Marder, K.; Waters, C.; Fahn, S.; Kasten, M.; Brüggemann, N.; Borsche, M.; Foroud, T.; Tolosa, E.; Garrido, A.; Annesi, G.; Gagliardi, M.; Bozi, M.; Stefanis, L.; Ferreira, J.J.; Guedes, L.C.; Avenali, M.; Petrucci, S.; Clark, L.; Fedotova, E.Y.; Abramycheva, N.Y.; Alvarez, V.; Menéndez-González, M.; Maestre, SJ.; Gómez-Garre, P.; Mir, P.; Belin, A.C.; Ran, C.; Lin, C.H.; Kuo, M.C.; Crosiers, D.; Wszolek, Z.K.; Ross, O.A.; Jankovic, J.; Nishioka, K.; Funayama, M.; Clarimon, J.; Williams-Gray, C.H.; Camacho, M.; Cornejo-Olivas, M.; Torres-Ramirez, L.; Wu, YR.; Lee-Chen, G.J.; Morgadinho, A.; Pulkes, T.; Termsarasab, P.; Berg, D.; Kuhlenbäumer, G.; Kühn, A.A.; Borngräber, F.; de Michele, G.; De Rosa, A.; Zimprich, A.; Puschmann, A.; Mellick, GD.; Dorszewska, J.; Carr, J.; Ferese, R.; Gambardella, S.; Chase, B.; Markopoulou, K.; Satake, W.; Toda, T.; Rossi, M.; Merello, M.; Lynch, T.; Olszewska, D.A.; Lim, S.Y.; Ahmad-Annuar, A.; Tan, A.H.; Al-Mubarak, B.; Hanagasi, H.; Koziorowski, D.; Genç, G.; Aguiar, P.D.; Barkhuizen, M.; Pimentel, M.M.G.; Saunders-Pullman, R.; van de Warrenburg, B.; Bressman, S.; Toft, M.; Appel-Cresswell, S.; Lang, A.E.; Skorvanek, M.; Boon, A.J.W.; Krüger, R.; Sammler, E.M.; Tumas, V.; Zhang, B.R.; Garraux, G.; Chung, SJ.; Kim, Y.J.; Winkelmann, J.; Sue, C.M.; Tan, E.K.; Damásio, J.; Klivényi, P.; Kostic, V.S.; Arkadir, D.; Martikainen, M.; Borges, V.; Hertz, J.M.; Brighina, L.; Spitz, M.; Suchowersky, O.; Riess, O.; Das, P.; Mollenhauer, B.; Gatto, E.M.; Petersen, M.S.; Hattori, N.; Wu, R.M.; Illarioshkin, S.N.; Valente, E.M.; Aasly, J.O.; Aasly, A.; Alcalay, R.N.; Thaler, A.; Farrer, M.J.; Brockmann, K.; Corvol, J.C.; Klein, C., and School of Medicine

Abstract

Background: as gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objective: the objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. Methods: we conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype–phenotype relationships were analyzed. Results: we collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. Conclusions: within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward, Open Access funding enabled and organized by Projekt DEAL. Funding text 1: Carolyn M. Sue: Intellectual Property Rights: WO 2015/157794 A1. Advisory Boards: AbbVie. Employment: Northern Sydney Local Health District, Sydney, Australia. Honoraria: The International Movement Disorder Society for course directorships and invited lectures. Patents: WO 2015/157794 A1. Grants: 2018–22 NHMRC Partnership grant (APP1151906); 2018–22 MRFF NHMRC Practitioner Fellowship (App1136800); 2020–2025 NHMRC Partnership grant (APP11179029); 2020–2023 NHMRC Ideas Grant (APP1184403); 2021–5 MRFF 2020 Genomics Health Futures Mission Grant (APP2007959); 2021–23 ASAP Project grant ; Funding text 2: Natalya Y. Abramycheva: Employment: Research Center of Neurology, Ministry of Science and Higher Education of the Russian Federation, Moscow, Russia. Grants: Russian Science Foundation ; Funding text 3: Rachel Saunders?Pullman: Employment: Icahn School of Medicine at Mount Sinai, New York City, New York, USA. Grants: NIH 1U01NS107016?01A1; Bigglesworth Family Foundation. Others: Bachmann?Strauss Chair ; Funding text 4: Zbigniew K. Wszolek: Advisory Boards: Vigil Neuroscience, Inc. Employment: Mayo Clinic, Jacksonville, Florida, USA. Grants: NIH/NIA and NIH/NINDS (1U19AG063911, FAIN: U19AG063911), Mayo Clinic Center for Regenerative Medicine, PI or co?PI on Biohaven Pharmaceuticals, Inc. (BHV4157?206 and BHV3241?301), Neuraly, Inc. (NLY01?PD?1), and Vigil Neuroscience, Inc. (VGL101?01.001 and VGL101?01.002). He also serves as the co?PI of the Mayo Clinic APDA Center for Advanced Research. Others: Donations from the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases fund, and The Albertson Parkinson's Research Foundation ; Funding text 5: Vladimir S. Kostic: Employment: School of Medicine, University of Belgrade, Serbia. Grants: Project No 175090 Ministry of Education, Science and Technological Development of Serbia. Project ??28 Serbian Academy of S

Published
2023

34. Parkinson's Disease

Author

Berg, D., Krüger, R., Rieß, O., Riederer, P., Lajtha, Abel, editor, Youdim, Moussa B. H., editor, Riederer, Peter, editor, Mandel, Sylvia A., editor, and Battistin, Leontino, editor

Published
2007
Full Text
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35. Update on Parkinson's Disease Genetics

Author

Krüger, R., Berg, D., Riess, O., Riederer, P., Lajtha, Abel, editor, Youdim, Moussa B. H., editor, Riederer, Peter, editor, Mandel, Sylvia A., editor, and Battistin, Leontino, editor

Published
2007
Full Text
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38. Validation of the custo screen 400 ambulatory blood pressure-monitoring device according to the European Society of Hypertension International Protocol revision 2010

Author

Bramlage P, Deutsch C, Krüger R, Wolf A, Müller P, Zwingers T, Beime B, and Mengden T

Subjects
Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Peter Bramlage,1 Cornelia Deutsch,1 Ralf Krüger,1 Andreas Wolf,2 Peter Müller,2 Thomas Zwingers,1,4 Beate Beime,1 Thomas Mengden31Institut für Pharmakologie und Präventive Medizin, Cloppenburg, 2Müller and Sebastiani, Ottobrunn, 3Kerckhoff-Klinik, Bad Nauheim, 4Estimate, Augsburg, GermanyObjective: The aim of the present study was to validate the custo screen 400 ambulatory blood pressure-monitoring (ABPM) device according to the 2010 International Protocol revision of the European Society of Hypertension (ESH-IP). The device can be used for ABPM for up to 72 hours.Materials and methods: Systolic and diastolic blood pressure (SBP and DBP, respectively) were sequentially measured in 33 adult subjects (13 males and 20 females) and compared with a standard mercury sphygmomanometer (two observers). A total of 99 comparison pairs were obtained.Results: The custo screen 400 met the requirements of parts 1 and 2 of the ESH-IP revision 2010. The mean difference between the device and reference sphygmomanometer readings was −0.5±4.5 mmHg for SBP and −0.1±3.3 mmHg for DBP. All but one measurement were within the absolute difference of 10 mmHg between the device and the observers for SBP and DBP. The number of absolute differences between the device and the observers within a range of 5 mmHg was 84 of 99 readings for SBP, and 93 of 99 readings for DBP.Conclusion: The custo screen 400 ABPM device met the requirements of the 2010 ESH-IP revision, and hence can be recommended for ABPM in adults. To our knowledge, the custo screen 400 is the first device to pass the revised ESH-IP 2010.Keywords: validation, ambulatory blood pressure monitoring, ESH

Published
2014

48. The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited

Author

Domenighetti, C. Douillard, V. Sugier, P.-E. Sreelatha, A.A.K. Schulte, C. Grover, S. May, P. Bobbili, D.R. Radivojkov-Blagojevic, M. Lichtner, P. Singleton, A.B. Hernandez, D.G. Edsall, C. Gourraud, P.-A. Mellick, G.D. Zimprich, A. Pirker, W. Rogaeva, E. Lang, A.E. Koks, S. Taba, P. Lesage, S. Brice, A. Corvol, J.-C. Chartier-Harlin, M.-C. Mutez, E. Brockmann, K. Deutschländer, A.B. Hadjigeorgiou, G.M. Dardiotis, E. Stefanis, L. Simitsi, A.M. Valente, E.M. Petrucci, S. Duga, S. Straniero, L. Zecchinelli, A. Pezzoli, G. Brighina, L. Ferrarese, C. Annesi, G. Quattrone, A. Gagliardi, M. Matsuo, H. Nakayama, A. Hattori, N. Nishioka, K. Chung, S.J. Kim, Y.J. Kolber, P. van de Warrenburg, B.P.C. Bloem, B.R. Aasly, J. Toft, M. Pihlstrøm, L. Correia Guedes, L. Ferreira, J.J. Bardien, S. Carr, J. Tolosa, E. Ezquerra, M. Pastor, P. Diez-Fairen, M. Wirdefeldt, K. Pedersen, N.L. Ran, C. Belin, A.C. Puschmann, A. Ygland Rödström, E. Clarke, C.E. Morrison, K.E. Tan, M. KraincMD, D. Burbulla, L.F. Farrer, M.J. Krüger, R. Gasser, T. Sharma, M. Vince, N. Elbaz, A. Comprehensive Unbiased Risk Factor Assessment for Genetics Environment in Parkinson's Disease (Courage-PD) Consortium and Domenighetti, C. Douillard, V. Sugier, P.-E. Sreelatha, A.A.K. Schulte, C. Grover, S. May, P. Bobbili, D.R. Radivojkov-Blagojevic, M. Lichtner, P. Singleton, A.B. Hernandez, D.G. Edsall, C. Gourraud, P.-A. Mellick, G.D. Zimprich, A. Pirker, W. Rogaeva, E. Lang, A.E. Koks, S. Taba, P. Lesage, S. Brice, A. Corvol, J.-C. Chartier-Harlin, M.-C. Mutez, E. Brockmann, K. Deutschländer, A.B. Hadjigeorgiou, G.M. Dardiotis, E. Stefanis, L. Simitsi, A.M. Valente, E.M. Petrucci, S. Duga, S. Straniero, L. Zecchinelli, A. Pezzoli, G. Brighina, L. Ferrarese, C. Annesi, G. Quattrone, A. Gagliardi, M. Matsuo, H. Nakayama, A. Hattori, N. Nishioka, K. Chung, S.J. Kim, Y.J. Kolber, P. van de Warrenburg, B.P.C. Bloem, B.R. Aasly, J. Toft, M. Pihlstrøm, L. Correia Guedes, L. Ferreira, J.J. Bardien, S. Carr, J. Tolosa, E. Ezquerra, M. Pastor, P. Diez-Fairen, M. Wirdefeldt, K. Pedersen, N.L. Ran, C. Belin, A.C. Puschmann, A. Ygland Rödström, E. Clarke, C.E. Morrison, K.E. Tan, M. KraincMD, D. Burbulla, L.F. Farrer, M.J. Krüger, R. Gasser, T. Sharma, M. Vince, N. Elbaz, A. Comprehensive Unbiased Risk Factor Assessment for Genetics Environment in Parkinson's Disease (Courage-PD) Consortium

Published
2022

49. Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease

Author

Domenighetti, C. Sugier, P.-E. Sreelatha, A.A.K. Schulte, C. Grover, S. Mohamed, O. Portugal, B. May, P. Bobbili, D.R. Radivojkov-Blagojevic, M. Lichtner, P. Singleton, A.B. Hernandez, D.G. Edsall, C. Mellick, G.D. Zimprich, A. Pirker, W. Rogaeva, E. Lang, A.E. Koks, S. Taba, P. Lesage, S. Brice, A. Corvol, J.-C. Chartier-Harlin, M.-C. Mutez, E. Brockmann, K. Deutschländer, A.B. Hadjigeorgiou, G.M. Dardiotis, E. Stefanis, L. Simitsi, A.M. Valente, E.M. Petrucci, S. Duga, S. Straniero, L. Zecchinelli, A. Pezzoli, G. Brighina, L. Ferrarese, C. Annesi, G. Quattrone, A. Gagliardi, M. Matsuo, H. Kawamura, Y. Hattori, N. Nishioka, K. Chung, S.J. Kim, Y.J. Kolber, P. Van De Warrenburg, B.P.C. Bloem, B.R. Aasly, J. Toft, M. Pihlstrøm, L. Guedes, L.C. Ferreira, J.J. Bardien, S. Carr, J. Tolosa, E. Ezquerra, M. Pastor, P. Diez-Fairen, M. Wirdefeldt, K. Pedersen, N.L. Ran, C. Belin, A.C. Puschmann, A. Hellberg, C. Clarke, C.E. Morrison, K.E. Tan, M. Krainc, D. Burbulla, L.F. Farrer, M.J. Krüger, R. Gasser, T. Sharma, M. Elbaz, A. and Domenighetti, C. Sugier, P.-E. Sreelatha, A.A.K. Schulte, C. Grover, S. Mohamed, O. Portugal, B. May, P. Bobbili, D.R. Radivojkov-Blagojevic, M. Lichtner, P. Singleton, A.B. Hernandez, D.G. Edsall, C. Mellick, G.D. Zimprich, A. Pirker, W. Rogaeva, E. Lang, A.E. Koks, S. Taba, P. Lesage, S. Brice, A. Corvol, J.-C. Chartier-Harlin, M.-C. Mutez, E. Brockmann, K. Deutschländer, A.B. Hadjigeorgiou, G.M. Dardiotis, E. Stefanis, L. Simitsi, A.M. Valente, E.M. Petrucci, S. Duga, S. Straniero, L. Zecchinelli, A. Pezzoli, G. Brighina, L. Ferrarese, C. Annesi, G. Quattrone, A. Gagliardi, M. Matsuo, H. Kawamura, Y. Hattori, N. Nishioka, K. Chung, S.J. Kim, Y.J. Kolber, P. Van De Warrenburg, B.P.C. Bloem, B.R. Aasly, J. Toft, M. Pihlstrøm, L. Guedes, L.C. Ferreira, J.J. Bardien, S. Carr, J. Tolosa, E. Ezquerra, M. Pastor, P. Diez-Fairen, M. Wirdefeldt, K. Pedersen, N.L. Ran, C. Belin, A.C. Puschmann, A. Hellberg, C. Clarke, C.E. Morrison, K.E. Tan, M. Krainc, D. Burbulla, L.F. Farrer, M.J. Krüger, R. Gasser, T. Sharma, M. Elbaz, A.

Abstract

Background: Previous studies showed that lifestyle behaviors (cigarette smoking, alcohol, coffee) are inversely associated with Parkinson's disease (PD). The prodromal phase of PD raises the possibility that these associations may be explained by reverse causation. Objective: To examine associations of lifestyle behaviors with PD using two-sample Mendelian randomisation (MR) and the potential for survival and incidence-prevalence biases. Methods: We used summary statistics from publicly available studies to estimate the association of genetic polymorphisms with lifestyle behaviors, and from Courage-PD (7,369 cases, 7,018 controls; European ancestry) to estimate the association of these variants with PD. We used the inverse-variance weighted method to compute odds ratios (ORIVW) of PD and 95%confidence intervals (CI). Significance was determined using a Bonferroni-corrected significance threshold (p = 0.017). Results: We found a significant inverse association between smoking initiation and PD (ORIVW per 1-SD increase in the prevalence of ever smoking = 0.74, 95%CI = 0.60-0.93, p = 0.009) without significant directional pleiotropy. Associations in participants =67 years old and cases with disease duration =7 years were of a similar size. No significant associations were observed for alcohol and coffee drinking. In reverse MR, genetic liability toward PD was not associated with smoking or coffee drinking but was positively associated with alcohol drinking. Conclusion: Our findings are in favor of an inverse association between smoking and PD that is not explained by reverse causation, confounding, and survival or incidence-prevalence biases. Genetic liability toward PD was positively associated with alcohol drinking. Conclusions on the association of alcohol and coffee drinking with PD are hampered by insufficient statistical power. © 2022 - IOS Press. All rights reserved.

Published
2022

50. Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease

Author

Domenighetti, C., Sugier, P.E., Sreelatha, A.A.K., Schulte, C., Grover, S., Mohamed, O., Portugal, B., May, P., Bobbili, D.R., Radivojkov-Blagojevic, M., Lichtner, P., Singleton, A.B., Hernandez, D.G., Edsall, C., Mellick, G.D., Zimprich, A., Pirker, W., Rogaeva, E., Lang, A.E., Koks, S., Taba, P., Lesage, S., Brice, A., Corvol, J.C., Chartier-Harlin, M.C., Mutez, E., Brockmann, K., Deutschländer, A.B., Hadjigeorgiou, G.M., Dardiotis, E., Stefanis, L., Simitsi, A.M., Valente, E.M., Petrucci, S., Duga, S., Straniero, L., Zecchinelli, A., Pezzoli, G., Brighina, L., Ferrarese, C., Annesi, G., Quattrone, A., Gagliardi, M., Matsuo, H., Kawamura, Y., Hattori, N., Nishioka, K., Chung, S.J., Kim, Y. J., Kolber, P., Warrenburg, B.P.C. van de, Bloem, B.R., Aasly, J., Toft, M., Pihlstrøm, L., Guedes, L.C., Ferreira, J.J., Bardien, S., Carr, J., Tolosa, E., Ezquerra, M., Pastor, P., Diez-Fairen, M., Wirdefeldt, K., Pedersen, N.L., Ran, C., Belin, A.C., Puschmann, A., Hellberg, C., Clarke, C.E., Morrison, K.E., Tan, M., Krainc, D., Burbulla, L.F., Farrer, M.J., Krüger, R., Gasser, T., Sharma, M., Elbaz, A., Domenighetti, C., Sugier, P.E., Sreelatha, A.A.K., Schulte, C., Grover, S., Mohamed, O., Portugal, B., May, P., Bobbili, D.R., Radivojkov-Blagojevic, M., Lichtner, P., Singleton, A.B., Hernandez, D.G., Edsall, C., Mellick, G.D., Zimprich, A., Pirker, W., Rogaeva, E., Lang, A.E., Koks, S., Taba, P., Lesage, S., Brice, A., Corvol, J.C., Chartier-Harlin, M.C., Mutez, E., Brockmann, K., Deutschländer, A.B., Hadjigeorgiou, G.M., Dardiotis, E., Stefanis, L., Simitsi, A.M., Valente, E.M., Petrucci, S., Duga, S., Straniero, L., Zecchinelli, A., Pezzoli, G., Brighina, L., Ferrarese, C., Annesi, G., Quattrone, A., Gagliardi, M., Matsuo, H., Kawamura, Y., Hattori, N., Nishioka, K., Chung, S.J., Kim, Y. J., Kolber, P., Warrenburg, B.P.C. van de, Bloem, B.R., Aasly, J., Toft, M., Pihlstrøm, L., Guedes, L.C., Ferreira, J.J., Bardien, S., Carr, J., Tolosa, E., Ezquerra, M., Pastor, P., Diez-Fairen, M., Wirdefeldt, K., Pedersen, N.L., Ran, C., Belin, A.C., Puschmann, A., Hellberg, C., Clarke, C.E., Morrison, K.E., Tan, M., Krainc, D., Burbulla, L.F., Farrer, M.J., Krüger, R., Gasser, T., Sharma, M., and Elbaz, A.

Abstract

Item does not contain fulltext, BACKGROUND: Previous studies showed that lifestyle behaviors (cigarette smoking, alcohol, coffee) are inversely associated with Parkinson's disease (PD). The prodromal phase of PD raises the possibility that these associations may be explained by reverse causation. OBJECTIVE: To examine associations of lifestyle behaviors with PD using two-sample Mendelian randomisation (MR) and the potential for survival and incidence-prevalence biases. METHODS: We used summary statistics from publicly available studies to estimate the association of genetic polymorphisms with lifestyle behaviors, and from Courage-PD (7,369 cases, 7,018 controls; European ancestry) to estimate the association of these variants with PD. We used the inverse-variance weighted method to compute odds ratios (ORIVW) of PD and 95%confidence intervals (CI). Significance was determined using a Bonferroni-corrected significance threshold (p = 0.017). RESULTS: We found a significant inverse association between smoking initiation and PD (ORIVW per 1-SD increase in the prevalence of ever smoking = 0.74, 95%CI = 0.60-0.93, p = 0.009) without significant directional pleiotropy. Associations in participants ≤67 years old and cases with disease duration ≤7 years were of a similar size. No significant associations were observed for alcohol and coffee drinking. In reverse MR, genetic liability toward PD was not associated with smoking or coffee drinking but was positively associated with alcohol drinking. CONCLUSION: Our findings are in favor of an inverse association between smoking and PD that is not explained by reverse causation, confounding, and survival or incidence-prevalence biases. Genetic liability toward PD was positively associated with alcohol drinking. Conclusions on the association of alcohol and coffee drinking with PD are hampered by insufficient statistical power.

Published
2022

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