DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?

DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?

Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) and Hereditary sensory neuropathy with dementia and hearing loss (HSN1E) are two rare, overlapping neurodegenerative syndromes that have been recently linked to allelic dominant pathogenic mutations in the DNMT1 gene, coding for...

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Bibliographic Details
Main Authors: Alessandra eMaresca, Mirko eZaffagnini, Leonardo eCaporali, Valerio eCarelli, Claudia eZanna
Format: Article
Language:English
Published: Frontiers Media S.A. 2015-03-01
Series:Frontiers in Genetics
Subjects:
Mitochondrial dysfunction
DNMT1 mutations
mtDNA methylation
ADCA-DN
HSN1E
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00090/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00090/full

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