einstein (São Paulo). 01/Jun/2016;14(2):291-3.

The advances and new technologies for the study of mitochondrial diseases

Bianca Bianco, Erik Montagna

DOI: 10.1590/S1679-45082016MD3561

ABSTRACT
Genetic mitochondrial disorders are responsible for the most common inborn errors of metabolism, caused by mutations in either nuclear genes or in mitochondrial DNA. This article presents the prokaryotic origin of the organelle and the relation between nuclear and mitochondrial genomes, as well as current evolutionary models for such mechanisms. It also addresses the structure of mitochondrial genes, their expression pattern, clinical features of gene defects, risk of transmission and current techniques to avoid these events in assisted human reproduction. Finally, it discusses the ethical implications of these possibilities.

The advances and new technologies for the study of mitochondrial diseases

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