Mitochondrial DNA Analysis and Mitochondrial Diseases

Abstract

Mitochondria are the organelle in which cellular respiration is carried out in eukaryotic organisms. Cellular respiration is the process of forming ATP energy by breaking down the nutrients with oxygen. Free oxygen radicals coming out in the result of the electrons escaping from the electron transport chain creates damage firstly in the mitochondria and then in the cell. Mutations occur in mitochondrial DNA (Mt-DNA) which are exposed to free oxygen radicals and are specific for mitochondria. In the result of the mutations, single and double branching, abasic areas, base modifications and sugar damage may occur in Mt-DNA, or there may be cross-linking between DNA and protein (Cooke at al. 2003; Evans and Cooke 2004). These mutations cause mainly Alzheimer and Parkinson, many diseases originated from endocrine glands, brain, heart and liver diseases. In this review, the structure and genetics of Mt-DNA and diseases related to Mt-DNA and mechanisms of formation were discussed.

Keywords: Mitochondrial DNA, Free oxygen radicals, Mutation, Insertion, Deletion.