Doenças mitocondriais

Abstract

Our understanding of the paper of the mitochondrial DNA (mtDNA) in certain diseases it developed quickly since 1988, when the first mutations in the mtDNA were discovered, allowing a lot of diseases to go provisionally classified as mitochondrial disorders because of morphologic characteristics or abnormal biochemistries of the mitochondria or a model of maternal inheritance. In the last five years, important progresses were observed in our understanding of genetics mitocondrial and how mtDNA mutations cause disease. To understand these processes is of fundamental importance for the patients' clinical treatment, with the genetic counselling and to develop new treatments. The mitochondrial diseases frequently involve the neuromuscular' system and they produce, among other manifestations, encephalopaty, myopathy, ataxia, degeneration of the retina and loss of functionality of the external ocular muscles. © Copyright Moreira Jr. Editora. Todos os direitos reservados.