Cockayne syndrome proteins CSA and CSB maintain mitochondrial homeostasis through NAD⁺ signaling.

ABSTRACT: Cockayne syndrome (CS) is a rare premature aging disease, most commonly caused by mutations of the genes encoding the CSA or CSB proteins. CS patients display cachectic dwarfism and severe neurological manifestations and have an average life expectancy of 12 years. The CS proteins are involved in transcription and DNA repair, with the latter including transcription-coupled nucleotide excision repair (TC-NER). However, there is also evidence for mitochondrial dysfunction in CS, which likely contributes to the severe premature aging phenotype of this disease. While damaged mitochondria and impaired mitophagy were characterized in mice with CSB deficiency, such changes in the CS nematode model and CS patients are not fully known. Our cross-species transcriptomic analysis in CS postmortem brai

SUBMITTER: Okur MN 

PROVIDER: S-EPMC7744955 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature