Mitochondrial DNA Mutations

Mitochondrial diseases are a group of disorders that generally have childhood onset and variable clinical features. Mitochondria have its own genetic material and are the primary responsible organelles for intracellular oxidative phosphorilation and energy production. Some of the subunits that are responsible for mitochondrial functions are encoded in mitochondrial DNA while the rest is encoded in nuclear DNA.Point mutations in mitochondrial DNA are responsible for the majority of mitochondrial diseases. Microarray based resequencing techniques are recently being used for detection of mutations, in addition to traditional methods such as sequence analysis, PCR/RFLP and DHPLC. Mitochip V2.0, a microarray based resequencing system, is an effective and preferable method for molecular diagnosis of mitochondrial diseases, for it has many advantages like short analysis duration, cost-effectiveness, reliability and ability to sequence whole mitochondrial genome in one analysis.In this study, the mitochondrial genome of six patients, who are clinically diagnosed with mitochondrial disease, and their healthy mothers have been analysed using a microarray based resequencing method. The results were compared with literature database in order to establish genotype-phenotype correlation.