The advances and new technologies for the study of mitochondrial diseases / Avanços e novas tecnologias para o estudo das doenças mitocondriais

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.

RESUMO As doenças genéticas mitocondriais são responsáveis pelos erros inatos do metabolismo mais comuns, causados por mutações tanto em genes nucleares como no DNA mitocondrial. Este artigo apresenta a origem procariótica dessa organela, e a relação entre os genomas nuclear e mitocondrial, bem como modelos evolutivos correntes para esses mecanismos. Também trata da estrutura dos genes mitocondriais, seu padrão de expressão, características clínicas de defeitos genéticos, riscos de transmissão e técnicas atualmente utilizadas para evitar esses eventos em reprodução humana assistida. Finalmente, discute as implicações éticas dessas possibilidades.

Proceedings of human mitochondrial DNA study and its applications to forensic medicine / 法医学杂志

The mitochondrial DNA (mtDNA) is a small circular genome located within the mitochondria in the cytoplasm of the cell. Evidence of its existence first arose over 30 years ago. Now the field of the mitochondria is one of the fastest growing disciplines in biomedicine which is driven by fundamentally interesting questions. These questions are mainly about the way of mitochondria evolving and energy producing. In addition, what the consequences of mitochondrial genome mutations in diseases are? How program cell death is regulated? What happens to mitochondria when aging? These questions remain to be answered and the basic understanding of them will contribute to anthropological and forensic analysis, as well as therapy of many diseases. The following review has brought this question to notice by summarizing recent mitochondria research.