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A C. elegans model for neurodegeneration in Cockayne syndrome.

ABSTRACT: Cockayne syndrome (CS) is a congenital syndrome characterized by growth and mental retardation, and premature ageing. The complexity of CS and mammalian models warrants simpler metazoan models that display CS-like phenotypes that could be studied in the context of a live organism. Here, we provide a characterization of neuronal and mitochondrial aberrations caused by a mutation in the csb-1 gene in Caenorhabditis elegans. We report a progressive neurodegeneration in adult animals that is enhanced upon UV-induced DNA damage. The csb-1 mutants show dysfunctional hyperfused mitochondria that degrade upon DNA damage, resulting in diminished respiratory activity. Our data support the role of endogenous DNA damage as a driving factor of CS-related neuropathology and underline the role of mitochondrial dysfunction in the disease.

SUBMITTER: Lopes AFC

PROVIDER: S-EPMC7641758 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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A C. elegans model for neurodegeneration in Cockayne syndrome.

Lopes Amanda F C AFC Bozek Katarzyna K Herholz Marija M Trifunovic Aleksandra A Rieckher Matthias M Schumacher Björn B

Nucleic acids research 20201101 19

Cockayne syndrome (CS) is a congenital syndrome characterized by growth and mental retardation, and premature ageing. The complexity of CS and mammalian models warrants simpler metazoan models that display CS-like phenotypes that could be studied in the context of a live organism. Here, we provide a characterization of neuronal and mitochondrial aberrations caused by a mutation in the csb-1 gene in Caenorhabditis elegans. We report a progressive neurodegeneration in adult animals that is enhance ...[more]

PMID: 33021672

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