Recent Advances in the Study of Neurodegenerative Diseases Causedby DNMT1 Point Mutations 

DNMT1 (DNA methyltransferase 1) is required for maintaining DNA methylation by addinga methyl group to the fifth carbon atom of cytosine base of CpG dinucleotide. Nonsynonymous mutations on theDNMT1 RFTS domain will lead to two rare neurodegenerative diseases: HSAN1E (hereditary sensory neuropathywith dementia and hearing loss type 1E) and ADCA-DN (autosomal dominant cerebellar ataxia, deafness and narcolepsy). The onset of these two diseases occurs in adulthood, but their pathogenesis remains unclear. This reviewsummarizes the mechanism of DNMT1 in catalyzing DNA methylation and other important biological functions, aswell as the recent advances in the study of neurodegenerative diseases caused by DNMT1 point mutations. This review will further discuss the possible molecular mechanisms underlying these DNMT1-mutation mediated diseases.

CSTR: 32200.14.cjcb.2023.11.0012