Mutations causing mitochondrial disease: What is new and what challenges remain?

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

(2015) Aurelio Reyes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing

(2015) Pradeep Reddy et al.   CELL

Mitochondrial Donation — How Many Women Could Benefit?

(2015) Gráinne S. Gorman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans

(2015) Angela Pyle et al.   PLoS Genetics

Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28

(2015) Gráinne S. Gorman et al.   JAMA Neurology

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention

(2015) Christin Tischner et al.   HUMAN MOLECULAR GENETICS

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

(2014) Robert Kopajtich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

(2014) Gerald Pfeffer et al.   BRAIN

Polar Body Genome Transfer for Preventing the Transmission of Inherited Mitochondrial Diseases

(2014) Tian Wang et al.   CELL

NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease

(2014) Raffaele Cerutti et al.   Cell Metabolism

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

(2014) Elena Perli et al.   EMBO Molecular Medicine

Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations

(2014) Hue Tran Hornig-Do et al.   EMBO Molecular Medicine

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

(2014) C. Garone et al.   EMBO Molecular Medicine

Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3

(2014) Nahid A Khan et al.   EMBO Molecular Medicine

Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations

(2014) P. A. Gammage et al.   EMBO Molecular Medicine

A national perspective on prenatal testing for mitochondrial disease

(2014) Victoria Nesbitt et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Gene Therapy Using a Liver-targeted AAV Vector Restores Nucleoside and Nucleotide Homeostasis in a Murine Model of MNGIE

(2014) Javier Torres-Torronteras et al.   MOLECULAR THERAPY

A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs

(2014) T. Suzuki et al.   NUCLEIC ACIDS RESEARCH

High-Resolution Genomic Analysis of Human Mitochondrial RNA Sequence Variation

(2014) A. Hodgkinson et al.   SCIENCE

Trial End Points and Natural History in Patients With G11778A Leber Hereditary Optic Neuropathy

(2014) Byron L. Lam et al.   JAMA Ophthalmology

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

(2013) Penelope E. Bonnen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

(2013) Xiaowu Gai et al.   AMERICAN JOURNAL OF HUMAN GENETICS

First-in-class cardiolipin-protective compound as a therapeutic agent to restore mitochondrial bioenergetics

(2013) Hazel H Szeto   BRITISH JOURNAL OF PHARMACOLOGY

Turn up the power - pharmacological activation of mitochondrial biogenesis in mouse models

(2013) J C Komen et al.   BRITISH JOURNAL OF PHARMACOLOGY

ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies

(2013) Jessica Nouws et al.   HUMAN MOLECULAR GENETICS

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management

(2013) V. Nesbitt et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The Mitochondrial-Targeted Compound SS-31 Re-Energizes Ischemic Mitochondria by Interacting with Cardiolipin

(2013) A. V. Birk et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs

(2013) Sandra R Bacman et al.   NATURE MEDICINE

Targeted exome sequencing of suspected mitochondrial disorders

(2013) D. S. Lieber et al.   NEUROLOGY

No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline

(2013) E. Hagstrom et al.   NUCLEIC ACIDS RESEARCH

Supercomplex Assembly Determines Electron Flux in the Mitochondrial Electron Transport Chain

(2013) E. Lapuente-Brun et al.   SCIENCE

Alternative Oxidase Expression in the Mouse Enables Bypassing Cytochrome c Oxidase Blockade and Limits Mitochondrial ROS Overproduction

(2013) Riyad El-Khoury et al.   PLoS Genetics

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

(2012) Daniele Ghezzi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

(2012) Marjan E. Steenweg et al.   BRAIN

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

(2012) Tobias B Haack et al.   JOURNAL OF MEDICAL GENETICS

EPI-743 reverses the progression of the pediatric mitochondrial disease—Genetically defined Leigh Syndrome

(2012) Diego Martinelli et al.   MOLECULAR GENETICS AND METABOLISM

Monogenic Mitochondrial Disorders

(2012) Werner J.H. Koopman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

(2011) Alexandra Götz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy

(2011) Thomas Klopstock et al.   BRAIN

Conformational properties of cardiolipin-bound cytochrome c

(2011) J. Hanske et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system

(2010) Sophie Monnot et al.   HUMAN MUTATION

Mitochondrial Enzyme Rhodanese Is Essential for 5 S Ribosomal RNA Import into Human Mitochondria

(2010) Alexandre Smirnov et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

(2010) Lyndsey Craven et al.   NATURE

The role of cardiolipin in the structural organization of mitochondrial membranes

(2009) Michael Schlame et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Mitochondrial gene replacement in primate offspring and embryonic stem cells

(2009) Masahito Tachibana et al.   NATURE

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

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

Two distinct structural elements of 5S rRNA are needed for its import into human mitochondria

(2008) A. Smirnov et al.   RNA