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BAG. Journal of basic and applied genetics

versión On-line ISSN 1852-6233


SIERRA-DELGADO, J.A  y  CONTRERAS-GARCIA, G.A. Mechanisms for the epigenetic regulation of mitochondrial DNA. BAG, J. basic appl. genet. [online]. 2016, vol.27, n.2, pp.7-14. ISSN 1852-6233.

The mitochondrion is one of the most important cellular organelles for the right functioning of the eukaryotic cell. It plays a fundamental role in traditional epigenetics, because it takes part in one-carbon metabolism and the folate cycle. However, in mammals, the epigenetic mechanisms regulating the synthesis and expression of mitochondrial DNA (mtDNA), a field of study called mitoepigenetics, are understudied. The mtDNA is a circular DNA molecule of 16.6 kb without introns, which codes for 14 proteins, two rRNA and 22 tRNA. The mtDNA is packaged in nucleoids, composed of histone analogs called TFAM (Transcription factor A of Mitochondria). In mammals, evidence of epigenetic regulation of mtDNA has been known since 1984; however, the finding remained controversial until 2011, when the translocation of nuclear DNMT1 to the mitochondria was proved. Since then, there have been reports of other epigenetic mechanisms, which include the presence of 5-methylcytosines in CpG and Non-CpG pattern, 5-hidroximetilcytosines (5HmC), nucleoids remodeling and interference RNA. Similarly, these regulation patterns have been related to aberrant levels of transcription of mitochondrial genes. Association of this aberrant transcription with pathologies like cancer, NASH (not-alcoholic esteatopathy), neurodegenerative diseases and diabetic retinopaty, but also with environmental changes and even ageing, have been described. According to these results and the recent advances in the field, mitoepigenetics should be considered as a fascinating and growing field of study, because it might contribute to the understanding of the pathophysiology of complex diseases.

Palabras clave : Epigenesics; Genetic; DNA methilation; Mitochondrial DNA; Mitochondria.

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