Audrey Labarre, Ericka Guitard, Gilles Tossing, J Alex Parker
{"title":"<i>har-1/CHCHD10</i> mutations induce neurodegeneration and mitochondrial fragmentation in <i>Caenorhabditis elegans</i>.","authors":"Audrey Labarre, Ericka Guitard, Gilles Tossing, J Alex Parker","doi":"10.17912/micropub.biology.001597","DOIUrl":null,"url":null,"abstract":"<p><p><i>CHCHD10</i> encodes a mitochondrial protein that plays a role in cristae morphology and oxidative phosphorylation, with mutations associated with neurodegenerative diseases, including the spectrum of amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD). The <i>Caenorhabditis elegans</i> ortholog of <i>CHCHD10</i> is <i>har-1</i> , which can be used to model CHCHD10-related neurodegenerative diseases. We focused on two <i>har-1</i> mutant strains: one featuring a 260 bp deletion ( <i>gk3124</i> ) and the other with a G73E point mutation ( <i>ad2155</i> ). Both <i>har-1</i> mutants displayed progressive paralysis, degeneration of GABAergic motor neurons, and mitochondrial fragmentation. These strains may be valuable tools for investigating pathogenic mechanisms and therapeutic strategies for neurodegenerative diseases.</p>","PeriodicalId":74192,"journal":{"name":"microPublication biology","volume":"2025 ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12123440/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"microPublication biology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17912/micropub.biology.001597","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
CHCHD10 encodes a mitochondrial protein that plays a role in cristae morphology and oxidative phosphorylation, with mutations associated with neurodegenerative diseases, including the spectrum of amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD). The Caenorhabditis elegans ortholog of CHCHD10 is har-1 , which can be used to model CHCHD10-related neurodegenerative diseases. We focused on two har-1 mutant strains: one featuring a 260 bp deletion ( gk3124 ) and the other with a G73E point mutation ( ad2155 ). Both har-1 mutants displayed progressive paralysis, degeneration of GABAergic motor neurons, and mitochondrial fragmentation. These strains may be valuable tools for investigating pathogenic mechanisms and therapeutic strategies for neurodegenerative diseases.
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