Mitochondrial Genetics—Series II

Dear Colleagues,

Mitochondria originated from free-living, aerobic bacteria that were incorporated into the early, ancestral eukaryotic cells. Over time, this symbiotic relationship resulted in increased levels of energy production that allowed progression from single-cell eukaryotes to multi-cellular organisms, tissues and the diversity of species found worldwide. Cells possess the nuclear DNA (nDNA) inherited from both the father and mother, along with the maternally inherited mitochondrial (mt) DNA, which can be classified based upon their single nucleotide polymorphism (SNP) patterns into haplogroups representing ancestral geographic regions.

There is increased interest to understand the role of the mtDNA in human disease pathologies because in addition to energy production and redox status, the mtDNA plays an important role in retrograde signaling that modulates the nuclear genome. The influences of mtDNA upon disease processes can be separated into three categories. First, some human diseases are caused by specific mutations within the mtDNA genome. Secondly, other studies show that mtDNA haplogroups representing different ethnic/racial populations may also be associated with specific diseases, because some haplogroup-defining SNPs cause changes in amino acids (nonsynonymous), modify replication/transcription levels and alter retrograde signaling profiles. Finally, the mtDNA damage due to aging can lower mitochondrial efficiency, elevate levels of reactive oxygen species (ROS) causing cellular impairment and contribute to many age-related diseases. Techniques for in-depth sequencing and characterization of mtDNA have lagged behind the advancements that nDNA analyses have taken. However, it is vital to gain greater understanding of the contribution that the mitochondrial genome has on the development and progression of human diseases.

The aim of this Special Issue is to provide a comprehensive overview of various aspects of the mtDNA, including (a) methods available for sequencing, classifying haplogroups and identifying low level heteroplasmy variants, (b) cell culture and animal models to determine the functional consequences of having mtDNA variants, and (c) potential treatments to regulate and restore the dysfunctional mtDNA associated with human diseases. We hope that the experts in the mitochondrial medicine community will contribute creative, practical information that moves our field forward and provides open communication amongst our colleagues.

Prof. Dr. Maria Cristina Kenney
Guest Editor

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• mitochondria
• mitochondrial DNA
• haplogroups
• mitochondrial derived peptides
• sequencing
• retrograde signaling