The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

Mechanisms linking mtDNA damage and aging

(2015) Milena Pinto et al.   FREE RADICAL BIOLOGY AND MEDICINE

Mitochondrial DNA haplogroups are associated with severe sepsis and mortality in patients who underwent major surgery

(2015) Maria Angeles Jiménez-Sousa et al.   JOURNAL OF INFECTION

UK becomes first country to allow mitochondrial donation

(2015) Z. Kmietowicz   BMJ-British Medical Journal

UK becomes first country to allow mitochondrial donation

(2015) Z. Kmietowicz   BMJ-British Medical Journal

POLRMT does not transcribe nuclear genes

(2014) Inge Kühl et al.   NATURE

Selective propagation of functional mitochondrial DNA during oogenesis restricts the transmission of a deleterious mitochondrial variant

(2014) Jahda H Hill et al.   NATURE GENETICS

Transmission of mitochondrial mutations and action of purifying selection in Drosophila melanogaster

(2014) Hansong Ma et al.   NATURE GENETICS

The genomic landscape of polymorphic human nuclear mitochondrial insertions

(2014) Gargi Dayama et al.   NUCLEIC ACIDS RESEARCH

mtDNA Segregation in Heteroplasmic Tissues Is Common In Vivo and Modulated by Haplotype Differences and Developmental Stage

(2014) Joerg Patrick Burgstaller et al.   Cell Reports

Keeping mtDNA in Shape between Generations

(2014) James B. Stewart et al.   PLoS Genetics

The Challenges of Mitochondrial Replacement

(2014) Patrick F. Chinnery et al.   PLoS Genetics

Recent Mitochondrial DNA Mutations Increase the Risk of Developing Common Late-Onset Human Diseases

(2014) Gavin Hudson et al.   PLoS Genetics

Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

(2014) Young Seok Ju et al.   eLife

Mitochondrial genome changes and neurodegenerative diseases

(2013) Milena Pinto et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Hereditary mtDNA Heteroplasmy: A Baseline for Aging?

(2013) Michael Keogh et al.   Cell Metabolism

MTERF1 Binds mtDNA to Prevent Transcriptional Interference at the Light-Strand Promoter but Is Dispensable for rRNA Gene Transcription Regulation

(2013) Mügen Terzioglu et al.   Cell Metabolism

Germline mitochondrial DNA mutations aggravate ageing and can impair brain development

(2013) Jaime M. Ross et al.   NATURE

The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease

(2013) G. Hudson et al.   NEUROLOGY

High-throughput DNA sequencing errors are reduced by orders of magnitude using circle sequencing

(2013) D. I. Lou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Common Pathway for a Rare Disease?

(2013) S. B. Vafai et al.   SCIENCE

Mitochondrial Replacement, Evolution, and the Clinic

(2013) K. Reinhardt et al.   SCIENCE

Mitochondrial DNA Genetics and the Heteroplasmy Conundrum in Evolution and Disease

(2013) D. C. Wallace et al.   Cold Spring Harbor Perspectives in Biology

Ultra-Sensitive Sequencing Reveals an Age-Related Increase in Somatic Mitochondrial Mutations That Are Inconsistent with Oxidative Damage

(2013) Scott R. Kennedy et al.   PLoS Genetics

Recurrent Tissue-Specific mtDNA Mutations Are Common in Humans

(2013) David C. Samuels et al.   PLoS Genetics

In vivo mutagenesis reveals that OriL is essential for mitochondrial DNA replication

(2012) Sjoerd Wanrooij et al.   EMBO REPORTS

Universal heteroplasmy of human mitochondrial DNA

(2012) B. A. I. Payne et al.   HUMAN MOLECULAR GENETICS

Mitochondrial disorders as windows into an ancient organelle

(2012) Scott B. Vafai et al.   NATURE

Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission

(2012) Christoph Freyer et al.   NATURE GENETICS

Human mitochondrial DNA: roles of inherited and somatic mutations

(2012) Eric A. Schon et al.   NATURE REVIEWS GENETICS

Selfish Little Circles: Transmission Bias and Evolution of Large Deletion-Bearing Mitochondrial DNA in Caenorhabditis briggsae Nematodes

(2012) Katie A. Clark et al.   PLoS One

Non-Random mtDNA Segregation Patterns Indicate a Metastable Heteroplasmic Segregation Unit in m.3243A>G Cybrid Cells

(2012) Anton K. Raap et al.   PLoS One

Comparison of Mitochondrial Mutation Spectra in Ageing Human Colonic Epithelium and Disease: Absence of Evidence for Purifying Selection in Somatic Mitochondrial DNA Point Mutations

(2012) Laura C. Greaves et al.   PLoS Genetics

The implications of mitochondrial DNA copy number regulation during embryogenesis

(2011) Phillippa J. Carling et al.   MITOCHONDRION

Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations

(2011) Brendan A I Payne et al.   NATURE GENETICS

Super-resolution microscopy reveals that mammalian mitochondrial nucleoids have a uniform size and frequently contain a single copy of mtDNA

(2011) C. Kukat et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ultra-Deep Sequencing of Mouse Mitochondrial DNA: Mutational Patterns and Their Origins

(2011) Adam Ameur et al.   PLoS Genetics

Detecting Heteroplasmy from High-Throughput Sequencing of Complete Human Mitochondrial DNA Genomes

(2010) Mingkun Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Mitochondrial Proteome and Human Disease

(2010) Sarah E. Calvo et al.   Annual Review of Genomics and Human Genetics

Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups

(2010) Aurora Gómez-Durán et al.   HUMAN MOLECULAR GENETICS

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

(2010) Yiping He et al.   NATURE

Bioenergetics, the origins of complexity, and the ascent of man

(2010) D. C. Wallace   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gimap3 Regulates Tissue-Specific Mitochondrial DNA Segregation

(2010) Riikka Jokinen et al.   PLoS Genetics

Molecular Poltergeists: Mitochondrial DNA Copies (numts) in Sequenced Nuclear Genomes

(2010) Einat Hazkani-Covo et al.   PLoS Genetics

Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock

(2009) Pedro Soares et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The inheritance of pathogenic mitochondrial DNA mutations

(2009) L.M. Cree et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Gene–environment interactions in Leber hereditary optic neuropathy

(2009) Matthew Anthony Kirkman et al.   BRAIN

Importing Mitochondrial Proteins: Machineries and Mechanisms

(2009) Agnieszka Chacinska et al.   CELL

Do mitochondrial mutations cause recurrent miscarriage?

(2009) M. Kaare et al.   MOLECULAR HUMAN REPRODUCTION

New Evidence Confirms That the Mitochondrial Bottleneck Is Generated without Reduction of Mitochondrial DNA Content in Early Primordial Germ Cells of Mice

(2009) Liqin Cao et al.   PLoS Genetics

Selection against Pathogenic mtDNA Mutations in a Stem Cell Population Leads to the Loss of the 3243A→G Mutation in Blood

(2008) Harsha Karur Rajasimha et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

(2008) Hannah R. Elliott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

(2008) Mannis van Oven et al.   HUMAN MUTATION

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

(2008) Timothy Wai et al.   NATURE GENETICS

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

(2008) Lynsey M Cree et al.   NATURE GENETICS

A Mouse Model of Mitochondrial Disease Reveals Germline Selection Against Severe mtDNA Mutations

(2008) Weiwei Fan et al.   SCIENCE

Strong Purifying Selection in Transmission of Mammalian Mitochondrial DNA

(2008) James Bruce Stewart et al.   PLOS BIOLOGY