The mitochondrial genome, a growing interest inside an organelle

Abstract

Mitochondria are semi-autonomously reproductive organelles within eukaryotic cells carrying their own genetic material, called the mitochondrial genome (mtDNA). Until some years ago, mtDNA had primarily been used as a tool in population genetics. As scientists began associating mtDNA mutations with dozens of mysterious disorders, as well as the aging process and a variety of chronic degenerative diseases, it became increasingly evident that the information contained in this genome had substantial potential applications to improve human health. Today, mitochondria research covers a wide range of disciplines, including clinical medicine, biochemistry, genetics, molecular cell biology, bioinformatics, plant sciences and physiology. The present review intends to present a summary of the most exiting fields of the mitochondrial research bringing together several contributes in terms of original prospective and future applications.

Keywords:

• mtDNA
• heteroplasmy
• molecular diagnostics
• mitochondriopathies
• nanogenomics

Acknowledgements

The Sass Foundation for Medical Research, Inc (Roslyn, New York) and “Centro Dino Ferrari” association (Milan, Italy) are gratefully acknowledged for their financial support. The authors deeply thank Ms Sara Klaus for the stylistic revision. There are no conflicts of interest to report.