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Mitochondrial Heteroplasmy

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Mitochondrial Dynamics in Cardiovascular Medicine

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 982))

Abstract

Genetic polymorphisms, in concert with well-characterized etiology and progression of major pathologies, plays a significant role in aberrant processes afflicting human populations. Mitochondrial heteroplasmy represents a dynamically determined co-expression of inherited polymorphisms and somatic pathology in varying ratios within individual mitochondrial DNA (mtDNA) genomes with repetitive patterns of tissue specificity. The ratios of the MtDNA genomes represent a balance between healthy and pathological cellular outcomes. Mechanistically, cardiomyopathies have profound alterations of normative mitochondrial function. Certain allele imbalances in the nuclear mitochondrial genome are associated with key energy mitochondrial proteins. Mitochondrial heteroplasmy may manifest itself at critical protein expression points, e.g., cytochrome c oxidase (COX). Pathological mtDNA mutations also are associated with the development of congestive heart failure. Interestingly, mitochondrial ‘normal vs. abnormal’ ratios of various heteroplasmic populations may occur in families. In the translational context of human health and disease, we discuss the need for determining critical foci to probe multiple biological roles of mitochondrial heteroplasmy in cardiomyopathy.

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Acknowledgements

The authors would like to thank Ms. Danielle Benz, for her assistance in the preparation and formatting of the content of this chapter.

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Authors and Affiliations

  1. International Scientific Information, Inc., 150 Broadhollow Rd, Ste 114, Melville, NY, 11747, USA

    George B. Stefano & Richard M. Kream

  2. Cardiometabolic Designs LLC, 160 W15th Ave, Suite 303, Sea Cliff, NY, 11579, USA

    Christina Bjenning

  3. Division of Neuroscience, Bonoi Academy of Science & Education, Chapel Hill, NC, 27510, USA

    Fuzhou Wang MD, PhD

  4. Department of Anesthesiology, Affiliated Hospital of OB/GYN, Nanjing Medical University, Nanjing, 210004, China

    Nan Wang MD

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  1. George B. Stefano
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  2. Christina Bjenning
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  3. Fuzhou Wang MD, PhD
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  4. Nan Wang MD
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  5. Richard M. Kream
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Correspondence to George B. Stefano .

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  1. Dept. of Biomedical Advanced Sciences, Federico II University, Naples, Italy

    Gaetano Santulli

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Stefano, G.B., Bjenning, C., Wang, F., Wang, N., Kream, R.M. (2017). Mitochondrial Heteroplasmy. In: Santulli, G. (eds) Mitochondrial Dynamics in Cardiovascular Medicine. Advances in Experimental Medicine and Biology, vol 982. Springer, Cham. https://doi.org/10.1007/978-3-319-55330-6_30

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