Inheritance of mitochondrial DNA in humans: implications for rare and common diseases

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

(2020) Wei Wei et al.   Nature Communications

Mitochondrial DNA can be inherited from fathers, not just mothers

(2019) Thomas G. McWilliams et al.   NATURE

No further evidence for paternal leakage of mitochondrial DNA in humans yet

(2019) Sabine Lutz-Bonengel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial fragmentation drives selective removal of deleterious mtDNA in the germline

(2019) Toby Lieber et al.   NATURE

Germline selection shapes human mitochondrial DNA diversity

(2019) Wei Wei et al.   SCIENCE

Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon

(2019) Rocio Rius et al.   GENETICS IN MEDICINE

Quasi-Mendelian paternal inheritance of mitochondrial DNA: A notorious artifact, or anticipated behavior?

(2019) Sofia Annis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Nuclear mtDNA Concatemer (Mega-NUMT) Could Mimic Paternal Inheritance of Mitochondrial Genome

(2019) Jorune Balciuniene et al.   Frontiers in Genetics

The mitochondrial DNA genetic bottleneck: inheritance and beyond

(2018) Haixin Zhang et al.   Essays in Biochemistry

Mutation-specific effects in germline transmission of pathogenic mtDNA variants

(2018) Auke B C Otten et al.   HUMAN REPRODUCTION

Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos

(2018) Vasileios I. Floros et al.   NATURE CELL BIOLOGY

Mitochondrial genetic medicine

(2018) Douglas C. Wallace   NATURE GENETICS

Biparental Inheritance of Mitochondrial DNA in Humans

(2018) Shiyu Luo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Oldies but Goldies mtDNA Population Variants and Neurodegenerative Diseases

(2018) Patrick F. Chinnery et al.   Frontiers in Neuroscience

Genetic Counselling for Maternally Inherited Mitochondrial Disorders

(2017) Joanna Poulton et al.   Molecular Diagnosis & Therapy

Live birth derived from oocyte spindle transfer to prevent mitochondrial disease

(2017) John Zhang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

(2016) Ian J. Wilson et al.   HUMAN MOLECULAR GENETICS

Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease

(2016) Louise A. Hyslop et al.   NATURE

Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing

(2016) Ana Latorre-Pellicer et al.   NATURE

Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells

(2016) Auke B.C. Otten et al.   Cell Reports

A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease

(2016) Johanna H.K. Kauppila et al.   Cell Reports

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

(2015) James B. Stewart et al.   NATURE REVIEWS GENETICS

The Challenges of Mitochondrial Replacement

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

Hereditary mtDNA Heteroplasmy: A Baseline for Aging?

(2013) Michael Keogh et al.   Cell Metabolism

The association of the mitochondrial DNA OriB variant (16184–16193 polycytosine tract) with type 2 diabetes in Europid populations

(2013) Zheng Ye et al.   DIABETOLOGIA

The activity and copy number of mitochondrial DNA in ovine oocytes throughout oogenesis in vivo and during oocyte maturation in vitro

(2013) Matthew Cotterill et al.   MOLECULAR HUMAN REPRODUCTION

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

(2013) G. Hudson et al.   NEUROLOGY

A Common Pathway for a Rare Disease?

(2013) S. B. Vafai et al.   SCIENCE

Heteroplasmy of Mouse mtDNA Is Genetically Unstable and Results in Altered Behavior and Cognition

(2012) Mark S. Sharpley et al.   CELL

Universal heteroplasmy of human mitochondrial DNA

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

Towards germline gene therapy of inherited mitochondrial diseases

(2012) Masahito Tachibana et al.   NATURE

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

(2012) Christoph Freyer et al.   NATURE GENETICS

The Strength and Timing of the Mitochondrial Bottleneck in Salmon Suggests a Conserved Mechanism in Vertebrates

(2011) Jonci N. Wolff et al.   PLoS One

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

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

Evidence for Sub-Haplogroup H5 of Mitochondrial DNA as a Risk Factor for Late Onset Alzheimer's Disease

(2010) Aurelia Santoro et al.   PLoS One

Gene–environment interactions in Leber hereditary optic neuropathy

(2009) Matthew Anthony Kirkman et al.   BRAIN

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

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

Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease

(2008) James Bruce Stewart et al.   NATURE REVIEWS GENETICS

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

(2008) Weiwei Fan et al.   SCIENCE