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The Role of Mitochondrial Genes in Neurodegenerative Disorders

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Do Somatic Mitochondrial DNA Mutations Contribute to Parkinson's Disease?

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A Primer Genetic Toolkit for Exploring Mitochondrial Biology and Disease Using Zebrafish

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Deleterious mitochondrial heteroplasmies exhibit increased longitudinal change in variant allele fraction

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Single-Cell Approaches for Studying the Role of Mitochondrial DNA in Neurodegenerative Disease

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Accumulation of homoplasmic mtDNA point mutations in erythroblasts isolated from the bone marrow of patients with refractory anemia with ring sideroblasts (RARS)

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Quantifying phenotype and genotype distributions in single muscle fibres from patients carrying the pathogenic mtDNA variant m.3243A>GPreprint

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Type‐Specific Single‐Neuron Analysis Reveals Mitochondrial DNA Maintenance Failure Affecting Atrophying Pontine Neurons Differentially in Lewy Body Dementia Syndromes

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Baseline Characteristics of Mitochondrial DNA and Mutations Associated With Short-Term Posttreatment CD4+T-Cell Recovery in Chinese People With HIV

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Polymorphisms in mitochondrial genes encoding complex I subunits are maternal factors of voluntary alcohol consumption in the rat

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Common Deletion (CD) in mitochondrial DNA of irradiated rat heart

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Cell division can accelerate the loss of a heteroplasmic mitochondrial DNA mutation in a mouse model of mitochondrial diseasePreprint

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Spectrum and Impact of Mitochondrial DNA Mutations in Ovarian Cancer

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Mitochondrial Heteroplasmy and Disease

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Insalata, F., Hoitzing, H., Aryaman, J., & Jones, N. S. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.09.01.277137 · Cited by 1

Clonal dynamics of normal hepatocyte expansions in homeostatic human livers and their association with the biliary epitheliumPreprint

Passman, A. M., Haughey, M. J., Carlotti, E., Williams, M. J., Cereser, B., Lin, M., Devkumar, S., Gabriel, J. P., Russo, F. P., Hoare, M., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.07.02.450704 · Cited by 1

Tissue-specific responses to TFAM and mtDNA copy number manipulation in prematurely ageing micePreprint

Kremer, L. S., Gao, G., Rigoni, G., Filograna, R., Mennuni, M., Wibom, R., Végvári, Á., Koolmeister, C., & Larsson, N. (2025) · eLife · doi:10.7554/elife.104461.1 · Cited by 1

Inferring Accumulation Times of Mitochondrial DNA Deletion Mutants from Cross-Sectional Single-Cell Data: Application to Tabula Muris SenisPreprint

Kowald, A., & Kirkwood, T. B. L. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.01.30.702741 · Cited by 1

Single-nucleoid imaging in whole cells defines the dynamics of the mtDNA life cyclePreprint

Wolf, D. M., Mjeku, E., Segawa, M., Casey, A. M., Belaadi, N., Franklin, R., Murphy, M. P., Prudent, J., Jones, N. S., & Chinnery, P. F. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.01.725017 · Cited by 1

Preface

Crews, D. E. (2003) · Cambridge University Press eBooks · doi:10.1017/cbo9780511542350.001

The impact of mitochondria on preimplantation development in the rhesus macaque

Gibson, T. C. (2010) · Human Biology

Human variation: chronic diseases, risk factors, and senescence

Crews, D. E. (2003) · Cambridge University Press eBooks · doi:10.1017/cbo9780511542350.005

The roles of mutation rate and selective pressure on observed levels of the human mitochondrial DNA deletion $\rm mtDNA\sp 4977$

Navidi, W. C., Tavaré, S., & Arnheim, N. (2003) · Lecture notes-monograph series · doi:10.1214/lnms/1215091146

References

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Mitochondrial DNA Biomarkers in Melanoma

Steinberg, M. L. (2011) · Springer eBooks · doi:10.1007/978-1-60761-433-3_11

HUMAN MITOCHONDRIAL DNA HAPLOGROUP J IN

Serk, P. (2004)

Frequent Intracellular Clonal Expansions of Somatic mtDNA Mutations

Coller, H. A., Bodyak, N. D., & Khrapko, K. (2002) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2002.tb02113.x · Cited by 59

Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction

Ageing, D. H., Greaves, L. C., Nooteboom, M., Elson, J. L., Taylor, G. A., Commane, D. M., Arasaradnam, R. P., Khrapko, K., Taylor, R. W., Kirkwood, T. B. L., et al. (2016)

Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing

Greaves, L. C., Nooteboom, M., Elson, J. L., Tuppen, H. A. L., Taylor, G. A., Commane, D. M., Arasaradnam, R. P., Khrapko, K., Taylor, R. W., Kirkwood, T. B. L., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004620 · Cited by 172

The rise and rise of mitochondrial DNA mutations

Lawless, C., Greaves, L. C., Reeve, A. K., Turnbull, D. M., & Vincent, A. E. (2020) · Open Biology · doi:10.1098/rsob.200061 · Cited by 174

Similar patterns of clonally expanded somatic mtDNA mutations in the colon of heterozygous mtDNA mutator mice and ageing humans

Baines, H. L., Stewart, J. B., Stamp, C., Županič, A., Kirkwood, T. B. L., Larsson, N., Turnbull, D. M., & Greaves, L. C. (2014) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2014.06.003 · Cited by 41