☆ 4.5 Article

Gene variations in GSTM3 are a risk factor for Alzheimer's disease

NEUROBIOLOGY OF AGING (2009)

期刊

NEUROBIOLOGY OF AGING

卷 30, 期 5, 页码 691-696

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ELSEVIER SCIENCE INC

DOI: 10.1016/j.neurobiolaging.2007.08.012

关键词

Alzheimer's disease; Oxidative stress; GSTM3; Genetic risk factor

类别

Geriatrics & Gerontology Neurosciences

资金

German Research Foundation [KO 2327/2-1, HE 2748/5]

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摘要

Oxidative stress is a relevant pathomechanism in Alzheimer's disease (AD) and gene variations in the glutathione S-transferase M3 gene (GSTM3), involved in the detoxification of oxygen radicals, might influence the risk of AD. We investigated the effect of three polymorphisms in GSTM3: rs1332018 (C/A); rs 1799735 (del/AGG); rs7483 (G/A), on the risk of AD in 363 AD patients and 358 healthy controls. Single marker association analyses revealed that the AGG/AGG genotype of the GSTM3 rs1799735 (del/AGG) polymorphism was associated with an increased risk of AD (p = 0.05), especially in the group of APOE4-allele non-carriers (p = 0.004; OR = 2.07). Examination of the haplotypes identified a two-marker haplotype (C/AGG) consisting of rs1332018 (C/A) and rs1799735 (del/AGG) to increase the risk of AD (p = 0.029), this effect was also most prevalent in APOE4-allele non-carriers (p = 0.009; OR = 1.95). The population attributable risk of this haplotype in APOE4-allele non-carriers was 32.2%. Our results suggest that there is a group of AD patients in which variations in metabolism of oxidative stress play an important role. (C) 2007 Elsevier Inc. All fights reserved.

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Article Clinical Neurology

Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers

Ris E. Jansen, Sven J. van der Lee, Duber Gomez-Fonseca, Itziar de Rojas, Maria Carolina Dalmasso, Benjamin Grenier-Boley, Anna Zettergren, Aniket Mishra, Muhammad Ali, Victor Andrade, Celine Bellenguez, Luca Kleineidam, Fahri Kucukali, Yun Ju Sung, Niccolo Tesi, Ellen M. Vromen, Douglas P. Wightman, Daniel Alcolea, Montserrat Alegret, Ignacio Alvarez, Philippe Amouyel, Lavinia Athanasiu, Shahram Bahrami, Henri Bailly, Olivia Belbin, Sverre Bergh, Lars Bertram, Geert Jan Biessels, Kaj Blennow, Rafael Blesa, Merce Boada, Anne Boland, Katharina Buerger, Angel Carracedo, Laura Cervera-Carles, Genevieve Chene, Jurgen A. H. R. Claassen, Stephanie Debette, Jean-Francois Deleuze, Peter Paul de Deyn, Janine Diehl-Schmid, Srdjan Djurovic, Oriol Dols-Icardo, Carole Dufouil, Emmanuelle Duron, Emrah Duezel, Tormod Fladby, Juan Fortea, Lutz Froelich, Pablo Garcia-Gonzalez, Maria Garcia-Martinez, Ina Giegling, Oliver Goldhardt, Johan Gobom, Timo Grimmer, Annakaisa Haapasalo, Harald Hampel, Olivier Hanon, Lucrezia Hausner, Stefanie Heilmann-Heimbach, Seppo Helisalmi, Michael T. Heneka, Isabel Hernandez, Sanna-Kaisa Herukka, Henne Holstege, Jonas Jarholm, Silke Kern, Anne-Brita Knapskog, Anne M. Koivisto, Johannes Kornhuber, Teemu Kuulasmaa, Carmen Lage, Christoph Laske, Ville Leinonen, Piotr Lewczuk, Alberto Lleo, Adolfo Lopez de Munain, Sara Lopez-Garcia, Wolfgang Maier, Marta Marquie, Merel O. Mol, Laura Montrreal, Fermin Moreno, Sonia Moreno-Grau, Gael Nicolas, Markus M. Nothen, Adelina Orellana, Lene Palhaugen, Janne M. Papma, Florence Pasquier, Robert Perneczky, Oliver Peters, Yolande A. L. Pijnenburg, Julius Popp, Danielle Posthuma, Ana Pozueta, Josef Priller, Raquel Puerta, Ines Quintela, Inez Ramakers, Eloy Rodriguez-Rodriguez, Dan Rujescu, Ingvild Saltvedt, Pascual Sanchez-Juan, Philip Scheltens, Norbert Scherbaum, Matthias Schmid, Anja Schneider, Geir Selbaek, Per Selnes, Alexey Shadrin, Ingmar Skoog, Hilkka Soininen, Lluis Tarraga, Stefan Teipel, Betty Tijms, Magda Tsolaki, Christine Van Broeckhoven, Jasper Van Dongen, John C. van Swieten, Rik Vandenberghe, Jean-Sebastien Vidal, Pieter J. Visser, Jonathan Vogelgsang, Margda Waern, Michael Wagner, Jens Wiltfang, Mandy M. J. Wittens, Henrik Zetterberg, Miren Zulaica, Cornelia M. van Duijn, Maria Bjerke, Sebastiaan Engelborghs, Frank Jessen, Charlotte E. Teunissen, Pau Pastor, Mikko Hiltunen, Martin Ingelsson, Ole A. Andreassen, Jordi Clarimon, Kristel Sleegers, Agustin Ruiz, Alfredo Ramirez, Carlos Cruchaga, Jean-Charles Lambert, Wiesje van der Flier

Summary: This study found that levels of A beta 42 and pTau in cerebrospinal fluid are more direct indicators of the pathogenesis of Alzheimer's disease than clinical diagnosis. Through a collaborative effort, novel associations with AD risk loci and multiple biological pathways related to A beta 42 and pTau were identified.

ACTA NEUROPATHOLOGICA (2022)

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Article Biochemistry & Molecular Biology

Blood plasma protein profiles of neuropsychiatric symptoms and related cognitive decline in older people

Miriam Rabl, Christopher Clark, Loic Dayon, Gene L. Bowman, Julius Popp

Summary: This study identified a panel of specific blood proteins associated with current and future neuropsychiatric symptoms (NPS) and cognitive decline in older individuals using proteomic analysis. These findings have the potential to serve as blood-based biomarkers for the pathological alterations relevant to NPS and related disease progression.

JOURNAL OF NEUROCHEMISTRY (2023)

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Article Clinical Neurology

Whole-exome rare-variant analysis of Alzheimer's disease and related biomarker traits

Fahri Kucukali, Alexander Neumann, Jasper Van Dongen, Tim De Pooter, Geert Joris, Peter De Rijk, Olena Ohlei, Valerija Dobricic, Isabelle Bos, Stephanie J. B. Vos, Sebastiaan Engelborghs, Ellen De Roeck, Rik Vandenberghe, Silvy Gabel, Karen Meersmans, Magda Tsolaki, Frans Verhey, Pablo Martinez-Lage, Mikel Tainta, Giovanni Frisoni, Oliver Blin, Jill C. Richardson, Regis Bordet, Philip Scheltens, Julius Popp, Gwendoline Peyratout, Peter Johannsen, Lutz Frolich, Yvonne Freund-Levi, Johannes Streffer, Simon Lovestone, Cristina Legido-Quigley, Mara Ten Kate, Frederik Barkhof, Henrik Zetterberg, Lars Bertram, Mojca Strazisar, Pieter Jelle Visser, Christine Van Broeckhoven, Kristel Sleegers

Summary: In this study, the association between rare genetic variation and AD-related biomarker traits was investigated. Several novel gene-trait associations were identified, shedding light on the role of rare coding variation in the pathophysiological processes of AD.

ALZHEIMERS & DEMENTIA (2022)

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Article Clinical Neurology

Multiomics profiling of human plasma and cerebrospinal fluid reveals ATN-derived networks and highlights causal links in Alzheimer's disease

Liu Shi, Jin Xu, Rebecca Green, Asger Wretlind, Jan Homann, Noel J. Buckley, Betty M. Tijms, Stephanie J. B. Vos, Christina M. Lill, Mara ten Kate, Sebastiaan Engelborghs, Kristel Sleegers, Giovanni B. Frisoni, Anders Wallin, Alberto Lleo, Julius Popp, Pablo Martinez-Lage, Johannes Streffer, Frederik Barkhof, Henrik Zetterberg, Pieter Jelle Visser, Simon Lovestone, Lars Bertram, Alejo J. Nevado-Holgado, Petroula Proitsi, Cristina Legido-Quigley

Summary: This study employed an integrative system and causal inference approach to explore molecular signatures in blood and CSF, the AT(N) framework, MCI conversion to AD, and genetic risk for AD. Using the EMIF-AD cohort, the researchers measured proteins and metabolites in blood and CSF, as well as genotyped whole-blood samples. They found associations between AT(N) framework and protein/lipid hubs, and identified Proprotein Convertase Subtilisin/Kexin Type 7 as a potential causative factor for AD.

ALZHEIMERS & DEMENTIA (2023)

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Article Respiratory System

Obstructive sleep apnoea and 5-year cognitive decline in the elderly

Nicola Andrea Marchi, Geoffroy Solelhac, Mathieu Berger, Jose Haba-Rubio, Nadia Gosselin, Peter Vollenweider, Pedro Marques-Vidal, Julius Popp, Armin von Gunten, Martin Preisig, Bogdan Draganski, Raphael Heinzer

Summary: Using data from the HypnoLaus study, we found that the relationship between obstructive sleep apnoea (OSA) and cognitive decline in the elderly population is controversial. Our results showed that lower mean peripheral oxygen saturation during sleep and longer time spent asleep with SpO2 <90% were associated with steeper declines in cognitive scores. This study provides evidence of the contribution of OSA and nocturnal hypoxaemia to cognitive decline in the elderly population.

EUROPEAN RESPIRATORY JOURNAL (2023)

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Correction Multidisciplinary Sciences

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (vol 12, 3417, 2021)

Itziar de Rojas, Sonia Moreno-Grau, Niccolo Tesi, Benjamin Grenier-Boley, Victor Andrade, Iris Jansen, Nancy L. Pedersen, Najada Stringa, Anna Zettergren, Isabel Hernandez, Laura Montrreal, Carmen Antunez, Anna Antonell, Rick M. Tankard, Joshua Bis, Rebecca Sims, Celine Bellenguez, Ines Quintela, Antonio Gonzalez-Perez, Miguel Calero, Emilio Franco-Macias, Juan Macias, Rafael Blesa, Laura Cervera-Carles, Manuel Menendez-Gonzalez, Ana C. Frank-Garcia, Jose Luis W. Royo, Fermin Moreno, Raquel Huerto Vilas, Miquel Baquero, Monica Diez-Fairen, Carmen Lage, Sebastian Garcia-Madrona, Pablo Garcia-Gonzalez, Emilio Alarcon-Martin, Sergi Valero, Oscar Sotolongo-Grau, Abbe Ullgren, Adam C. Naj, Afina W. Lemstra, Alba Benaque, Alba Perez-Cordon, Alberto L. Benussi, Alberto Rabano, Alessandro Padovani, Alessio Squassina, Alexandre de Mendonca, Alfonso M. Arias Pastor, Almar A. L. Kok, Alun Meggy, Ana Belen Pastor, Ana Espinosa, Anais Corma-Gomez, Angel Martin Montes, Angela Sanabria, Anita W. DeStefano, Anja Schneider, Annakaisa Haapasalo, Anne Kinhult Stahlbom, Anne Tybjaerg-Hansen, Annette M. Hartmann, Annika Spottke, Arturo Corbaton-Anchuelo, Arvid B. Rongve, Barbara Borroni, Beatrice Arosio, Benedetta Nacmias, Borge G. Nordestgaard, Brian W. Kunkle, Camille Charbonnier, Carla Abdelnour, Carlo Masullo, Carmen Martinez Rodriguez, Carmen Munoz-Fernandez, Carole Dufouil, Caroline Graff, Catarina Ferreira, Caterina Chillotti, Chandra A. Reynolds, Chiara Fenoglio, Christine Van Broeckhoven, Christopher Clark, Claudia Pisanu, Claudia L. Satizabal, Clive Holmes, Dolores Buiza-Rueda, Dag Aarsland, Dan Rujescu, Daniel Alcolea, Daniela Galimberti, David Wallon, Davide Seripa, Edna Grunblatt, Efthimios Dardiotis, Emrah Duezel, Elio Scarpini, Elisa Conti, Elisa Rubino, Ellen Gelpi, Eloy Rodriguez-Rodriguez, Emmanuelle Duron, Eric Boerwinkle, Evelyn Ferri, Fabrizio Tagliavini, Fahri Kuecuekali, Florence Pasquier, Florentino Sanchez-Garcia, Francesca Mangialasche, Frank Jessen, Gael Nicolas, Geir Selbaek, Gemma K. Ortega, Genevieve Chene, Georgios Hadjigeorgiou, Giacomina Rossi, Gianfranco Spalletta, Giorgio Giaccone, Giulia Grande, Giuliano Binetti, Goran Papenberg, Harald Hampel, Henri Bailly, Henrik Zetterberg, Hilkka Soininen, Ida Karlsson, Ignacio Alvarez, Ildebrando Appollonio, Ina Giegling, Ingmar Skoog, Ingvild Saltvedt, Innocenzo Rainero, Irene Rosas Allende, Jakub Hort, Janine Diehl-Schmid, Jasper Van Dongen, Jean-Sebastien Vidal, Jenni Lehtisalo, Jens Wiltfang, Jesper Qvist Thomassen, Johannes Kornhuber, Jonathan A. Haines, Jonathan Vogelgsang, Juan Pineda, Juan Fortea, Julius Popp, Juergen Deckert, Katharina Buerger, Kevin Morgan, Klaus Fliessbach, Kristel Sleegers, Laura Molina-Porcel, Lena Kilander, Leonie Weinhold, Lindsay Farrer, Li-San Wang, Luca Kleineidam, Lucia A. Farotti, Lucilla Parnetti, Lucio Tremolizzo, Lucrezia Hausner, Luisa Benussi, Lutz Froelich, M. Arfan Ikram, M. Candida Deniz-Naranjo, Magda Tsolaki, Maitee Rosende-Roca, Malin Lowenmark, Marc Hulsman, Marco Spallazzi, Margaret H. Pericak-Vance, Margaret Esiri, Maria Bernal Sanchez-Arjona, Maria Carolina Dalmasso, Maria Teresa T. Martinez-Larrad, Marina Arcaro, Markus Noethen, Marta Fernandez-Fuertes, Martin Dichgans, Martin Ingelsson, Martin Herrmann, Martin Scherer, Martin Vyhnalek, Mary M. Kosmidis, Mary M. Yannakoulia, Matthias Schmid, Michael J. Ewers, Michael T. Heneka, Michael Wagner, Michela Scamosci, Miia Kivipelto, Mikko Hiltunen, Miren Zulaica, Montserrat Alegret, Myriam Fornage, Natalia Roberto, Natasja van Schoor, Nazib Seidu, Nerisa Banaj, Nicola Armstrong, Nikolaos Scarmeas, Norbert A. Scherbaum, Oliver Goldhardt, Oliver Hanon, Oliver Peters, Olivia Anna Skrobot, Olivier Quenez, Ondrej Lerch, Paola Bossu, Paolo Caffarra, Paolo Dionigi Rossi, Paraskevi Sakka, Patrizia Mecocci, Per Hoffmann, Peter Holmans, Peter A. Fischer, Peter Riederer, Qiong Yang, Rachel Marshall, Rajesh N. Kalaria, Richard Mayeux, Rik Vandenberghe, Roberta Cecchetti, Roberta Ghidoni, Ruth Frikke-Schmidt, Sandro Sorbi, Sara Haegg, Sebastiaan Engelborghs, Seppo Helisalmi, Sigrid Botne Sando, Silke Kern, Silvana Archetti, Silvia Boschi, Silvia Fostinelli, Silvia Gil, Silvia Mendoza, Simon Mead, Simona Ciccone, Srdjan Djurovic, Stefanie Heilmann-Heimbach, Steffi Riedel-Heller, Teemu Kuulasmaa, Teodoro del Ser, Thibaud Lebouvier, Thomas Polak, Tiia Ngandu, Timo Grimmer, Valentina Bessi, Valentina Escott-Price, Vilmantas Giedraitis, Vincent Deramecourt, Wolfgang Maier, Xueqiu Jian, Yolande A. L. Pijnenburg, Patrick Gavin Kehoe, Guillermo Garcia-Ribas, Pascual Sanchez-Juan, Pau Pastor, Jordi Perez-Tur, Gerard Pinol-Ripoll, Adolfo Lopez De Munain, Jose Maria Garcia-Alberca, Maria J. Bullido, Victoria Alvarez, Alberto Lleo, Luis M. Real, Pablo Mir Miguel Medina, Philip Scheltens, Henne Holstege, Marta Marquie, Maria Eugenia Saez, Angel Carracedo, Philippe Amouyel, Gerard D. Schellenberg, Julie Williams, Sudha Seshadri, CorneliaM. Van Duijn, Karen A. Mather, Raquel Sanchez-Valle, Manuel Serrano-Rios, Adelina Orellana, Lluis Tarraga, Kaj Blennow, Ole A. Andreassen, Danielle Posthuma, Jordi Clarimon, Merce Boada, Wiesje M. Van der Flier, Alfredo Ramirez, Jean-Charles Lambert, Sven J. Van der Lee, Agustin Ruiz

NATURE COMMUNICATIONS (2023)

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Article Clinical Neurology

Effects of age, amyloid, sex, and APOE epsilon 4 on the CSF proteome in normal cognition

Kirsten E. J. Wesenhagen, Johan Gobom, Isabelle Bos, Stephanie J. B. Vos, Pablo Martinez-Lage, Julius Popp, Magda Tsolaki, Rik Vandenberghe, Yvonne Freund-Levi, Frans Verhey, Simon Lovestone, Johannes Streffer, Valerija Dobricic, Lars Bertram, Kaj Blennow, Maria Pikkarainen, Merja Hallikainen, Johanna Kuusisto, Markku Laakso, Hilkka Soininen, Philip Scheltens, Henrik Zetterberg, Charlotte E. Teunissen, Pieter Jelle Visser, Betty M. Tijms

Summary: This study investigated changes in cerebrospinal fluid proteomics with age and found that certain proteins increased with age regardless of amyloid status, associated with immune and signaling processes. On the other hand, some proteins decreased with age specifically in amyloid abnormal participants and were linked to extracellular matrix organization, suggesting physiological aging and early AD pathology.

ALZHEIMER'S & DEMENTIA: DIAGNOSIS, ASSESSMENT & DISEASE MONITORING (2022)

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Article Geriatrics & Gerontology

Frontoparietal function and underlying structure reflect capacity for motor skill acquisition during healthy aging

Sarah N. Kraeutner, Cristina Rubino, Jennifer K. Ferris, Shie Rinat, Lauren Penko, Larissa Chiu, Brian Greeley, Christina B. Jones, Beverley C. Larssen, Lara A. Boyd

Summary: This study examined the age-related changes in brain function and baseline brain structure that support motor skill acquisition. The findings showed that older adults experienced decreases in functional connectivity during motor skill acquisition, while younger adults experienced increases. Additionally, regardless of age group, lower baseline microstructure in a frontoparietal tract was associated with slower motor skill acquisition.

NEUROBIOLOGY OF AGING (2024)

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Article Geriatrics & Gerontology

Genetic analyses in multiplex families confirms chromosome 5q35 as a risk locus for Alzheimer's Disease in individuals of African Ancestry

Karen Nuytemans, Farid Rajabli, Melissa Jean-Francois, Jiji Thulaseedhara Kurup, Larry D. Adams, Takiyah D. Starks, Patrice L. Whitehead, Brian W. Kunkle, Allison Caban-Holt, Jonathan L. Haines, Michael L. Cuccaro, Jeffery M. Vance, Goldie S. Byrd, Gary W. Beecham, Christiane Reitz, Margaret A. Pericak-Vance

Summary: This study conducted genetic research on African American AD families and identified a significant linkage signal associated with AD, highlighting the importance of diverse population-level genetic data in understanding the genetic determinants of AD.

NEUROBIOLOGY OF AGING (2024)

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Article Geriatrics & Gerontology

Improvement of mnemonic discrimination with acute light exercise is mediated by pupil-linked arousal in healthy older adults

Kazuya Suwabe, Ryuta Kuwamizu, Kazuki Hyodo, Toru Yoshikawa, Takeshi Otsuki, Asako Zempo-Miyaki, Michael A. Yassa, Hideaki Soya

Summary: Physical exercise has a positive impact on hippocampal memory decline with aging. Recent studies have shown that even light exercise can improve memory and this improvement is mediated by the ascending arousal system. This study aimed to investigate the effects of light-intensity exercise on hippocampal memory function in healthy older adults and found that pupil dilation during exercise played a role in the memory improvement.

NEUROBIOLOGY OF AGING (2024)

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Article Geriatrics & Gerontology

Metformin, age-related cognitive decline, and brain pathology

Ajay Sood, Ana Werneck Capuano, Robert Smith Wilson, Lisa Laverne Barnes, Alifiya Kapasi, David Alan Bennett, Zoe Arvanitakis

Summary: The objective of this study was to explore the impact of metformin on cognition and brain pathology. The results showed that metformin users had slower decline in global cognition, episodic memory, and semantic memory compared to non-users. However, the relationship between metformin use and certain brain pathology remains uncertain.

NEUROBIOLOGY OF AGING (2024)

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Article Geriatrics & Gerontology

Sex modifies effects of imaging and CSF biomarkers on cognitive and functional outcomes: a study of Alzheimer's disease

Brian N. Lee, Junwen Wang, Molly A. Hall, Dokyoon Kim, Shana D. Stites, Li Shen

Summary: Alzheimer's disease (AD) is a neurodegenerative disorder characterized by memory and functional impairments. This study analyzed participants from the Alzheimer's Disease Neuroimaging Initiative and found differential associations between cerebral spinal fluid (CSF)/neuroimaging biomarkers and cognitive/functional outcomes, as well as variations between sexes. These findings suggest that sex differences may play a role in the development of AD.

NEUROBIOLOGY OF AGING (2024)

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Article Geriatrics & Gerontology

Associations between recall of proper names in story recall and CSF amyloid and tau in adults without cognitive impairment

Madeline R. Hale, Rebecca Langhough, Lianlian Du, Bruce P. Hermann, Carol A. Van Hulle, Margherita Carboni, Gwendlyn Kollmorgenj, Kristin E. Basche, Davide Bruno, Leah Sanson-Miles, Erin M. Jonaitis, Nathaniel A. Chin, Ozioma C. Okonkwo, Barbara B. Bendlin, Cynthia M. Carlsson, Henrik Zetterberg, Kaj Blennow, Tobey J. Betthauser, Sterling C. Johnson, Kimberly D. Mueller

Summary: This study demonstrates a relationship between cerebrospinal fluid biomarkers and the ability to recall proper names in the preclinical phase of Alzheimer's disease.

NEUROBIOLOGY OF AGING (2024)

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Article Geriatrics & Gerontology

Auditory robustness and resilience in the aging auditory system of the desert locust

Thomas T. Austin, Christian L. Thomas, Ben Warren

Summary: This study investigated the effects of age on the robustness and resilience of auditory system using the desert locust. The researchers found that gene expression changes were mainly influenced by age rather than noise exposure. Both young and aged locusts were able to recover their auditory nerve function within 48 hours of noise exposure, but the recovery of transduction current magnitude was impaired in aged locusts. Key genes responsible for robustness to noise exposure in young locusts and potential candidates for compensatory mechanisms in auditory neurons of aged locusts were identified.

NEUROBIOLOGY OF AGING (2024)

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