How mitochondrial DNA-driven changes to chromosomal DNA methylation add a layer of complexity to mitochondrial disease

• Published in: Epigenomics Vol. 11; no. 16; pp. 1749 - 1751
• Main Author: De Paepe, Boel
• Format: Journal Article
• Language: English
• Published: England Future Medicine Ltd 01-12-2019
• Subjects: Acidosis; Ataxia; Cardiomyopathy; Chromosomes; Communication; Deafness; Deoxyribonucleic acid; Diabetes mellitus; Disease; DNA; DNA Methylation; DNA, Mitochondrial; Encephalopathy; Epigenetics; Gene expression; Genomes; Genotype & phenotype; Haplotypes; Heteroplasmy; Humans; Lactic acidosis; MELAS syndrome; Metabolites; Mitochondria; mitochondrial disease; Mitochondrial Diseases - genetics; Mitochondrial DNA; mitochondrial DNA haplogroups; mitochondrial DNA heteroplasmy; mitochondrial DNA-driven epigenetic regulation; Mutation; Myopathy; Phenotypes; Phosphorylation; Point mutation; Stroke-like episodes; United States > US; mitochondrial DNA haplogroups; mitochondrial DNA-driven epigenetic regulation; mitochondrial DNA heteroplasmy; mitochondrial disease
• ISSN: 1750-1911; 1750-192X
• DOI: 10.2217/epi-2019-0310

[...]human cells can display heteroplasmy of mtDNA, meaning different sequence variants may co-exist in the same cells. The clinical heterogeneity associated with the point mutation is well-recognized, with phenotypes ranging from mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS), Leigh encephalopathy, hypertrophic cardiomyopathy and a wide variety of clinical syndromes that may include diabetes, deafness, ataxia or myopathy. Mitochondrial DNA haplotypes induce differential patterns of DNA methylation that result in differential chromosomal gene expression patterns.