Explanipedia

Variant load of mitochondrial DNA in single human mesenchymal stem cells Open

Daniel Hipps, Angela Pyle, Anna L.R. Porter, Philip F. Dobson, Helen Tuppen , et al. · 2024

Variant load of Mitochondrial DNA in single human Mesenchymal stem cells Open

Daniel Hipps, Anna L.R. Porter, Philip F. Dobson, Helen Tuppen, Conor Lawless , et al. · 2023

Mesenchymal stem cells (MSCs) are the parent cells to many cells of the musculoskeletal system including osteoblasts. Previous work has shown that in mouse models mitochondrial DNA (mtDNA) pathological variants lead to dysfunction of the r…

T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variants Open

Imogen G. Franklin, Paul Milne, Jordan Childs, Róisín M. Boggan, Isabel Barrow , et al. · 2023

Pathogenic mitochondrial DNA (mtDNA) single-nucleotide variants are a common cause of adult mitochondrial disease. Levels of some variants decrease with age in blood. Given differing division rates, longevity, and energetic requirements wi…

Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1 Open

Valeria Di Leo, Conor Lawless, Marie‐Pier Roussel, Tiago Gomes, Gráinne S. Gorman , et al. · 2023

Background: Myotonic dystrophy type 1 (DM1) is a dominant autosomal neuromuscular disorder caused by the inheritance of a CTG triplet repeat expansion in the Dystrophia Myotonica Protein Kinase ( DMPK) gene. At present, no cure currently e…

Parkinson’s disease neurons exhibit alterations in mitochondrial quality control proteins Open

Chun Chen, David McDonald, Alasdair Blain, Emily Mossman, Kiera Atkin , et al. · 2023

Mitochondrial dysfunction has been suggested to contribute to Parkinson’s disease pathogenesis, though an understanding of the extent or exact mechanism of this contribution remains elusive. This has been complicated by challenging nature …

PINK1-Dependent Mitophagy Inhibits Elevated Ubiquitin Phosphorylation Caused by Mitochondrial Damage Open

Olivia A. Lambourne, Shane Bell, Léa P. Wilhelm, Erika B. Yarbrough, Gabriel G. Holly , et al. · 2023

Ubiquitin phosphorylation by the mitochondrial protein kinase PTEN-induced kinase 1 (PINK1), upon mitochondrial depolarization, is an important intermediate step in the recycling of damaged mitochondria via mitophagy. As mutations in PINK1…

T cell differentiation drives the negative selection of pathogenic mtDNA variants Open

Imogen G. Franklin, Paul Milne, Jordan Childs, Róisín M. Boggan, Isabel Barrow , et al. · 2023

Pathogenic mitochondrial (mt)DNA single nucleotide variants are the most common cause of adult mitochondrial disease. Whilst levels of the most common heteroplasmic variant (m.3243A>G) remain stable in post-mitotic tissues, levels in mitot…

Strength training rescues mitochondrial dysfunction in skeletal muscle of patients with myotonic dystrophy type 1 Open

Valeria Di Leo, Conor Lawless, Marie-Pier Roussel, Tiago Gomes, Gráinne S. Gorman , et al. · 2023

Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder, for which no cure exists. This study investigates the effects of 12-week strength training on mitochondrial oxidative phosphorylation in skeletal muscle in a cohort of DM1 patien…

Inhibition of Ubiquitin Phosphorylation by Nucleoside Analogues Open

Olivia A. Lambourne, Shane Bell, Léa P. Wilhelm, Erika B. Yarbrough, Gabriel G. Holly , et al. · 2022

The phosphorylation of ubiquitin by the mitochondrial protein kinase PINK1, upon mitochondrial depolarization, is an important step in the repair and recycling of the mitochondria via mitophagy. As mutations in PINK1 can cause early-onset …

Novel<i>DNM1L</i>variants impair mitochondrial dynamics through divergent mechanisms Open

Kelsey A Nolden, John M. Egner, Jack J. Collier, Oliver M. Russell, Charlotte L. Alston , et al. · 2022

Imbalances in mitochondrial and peroxisomal dynamics are associated with a spectrum of human neurological disorders. Mitochondrial and peroxisomal fission both involve dynamin-related protein 1 (DRP1) oligomerisation and membrane constrict…

Detecting respiratory chain defects in osteoblasts from osteoarthritic patients using imaging mass cytometry Open

Daniel Hipps, Philip F. Dobson, Charlotte Warren, David McDonald, Andrew Fuller , et al. · 2022

Osteoporosis is a skeletal disease which is characterised by reduced bone mass and microarchitecture, with a subsequent loss of strength that predisposes to fragility and risk of fractures. The pathogenesis of falling bone mineral density,…

Detecting respiratory chain deficiency in osteoblasts of older patients Open

Daniel Hipps, Philip Dobson, Charlotte Warren, David McDonald, Andrew Fuller , et al. · 2021

Mitochondria contain their own genome which encodes 13 essential mitochondrial proteins and accumulates somatic variants at up to 10 times the rate of the nuclear genome. These mitochondrial genome variants lead to respiratory chain defici…

Author Correction: Age-associated mitochondrial DNA mutations cause metabolic remodeling that contributes to accelerated intestinal tumorigenesis Open

Anna L. Smith, Julia C. Whitehall, Carla Bradshaw, David M. Gay, Fiona Robertson , et al. · 2020

Age-associated mitochondrial DNA mutations cause metabolic remodeling that contributes to accelerated intestinal tumorigenesis Open

Anna L. Smith, Julia C. Whitehall, Carla Bradshaw, David M. Gay, Fiona Robertson , et al. · 2020

Mitochondrial transplantation—a possible therapeutic for mitochondrial dysfunction? Open

Robert N. Lightowlers, Zofia M. Chrzanowska‐Lightowlers, Oliver M. Russell · 2020

Transplantation of functional mitochondria directly into defective cells is a novel approach that has recently caught the attention of scientists and the general public alike. Could this be too good to be true?

Mitochondrial Diseases: Hope for the Future Open

Oliver M. Russell, Gráinne S. Gorman, Robert N. Lightowlers, Douglass M. Turnbull · 2020

Diagnosis and Treatment of Mitochondrial Myopathies Open

Syeda Ahmed, Lyndsey Craven, Oliver M. Russell, Douglass M. Turnbull, Amy E. Vincent · 2018

Mitochondrial myopathies are progressive muscle conditions caused primarily by the impairment of oxidative phosphorylation (OXPHOS) in the mitochondria. This causes a deficit in energy production in the form of adenosine triphosphate (ATP)…

Advances in methods for reducing mitochondrial DNA disease by replacing or manipulating the mitochondrial genome Open

K. Pavandeep, Lyndsey Craven, Kurt Hoogewijs, Oliver M. Russell, Robert N. Lightowlers · 2018

Mitochondrial DNA (mtDNA) is a multi-copy genome whose cell copy number varies depending on tissue type. Mutations in mtDNA can cause a wide spectrum of diseases. Mutated mtDNA is often found as a subset of the total mtDNA population in a …

Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo Open

Oliver M. Russell, Isabelle Fruh, K. Pavandeep, David Marcellin, Thierry Doll , et al. · 2018

We generated induced pluripotent stem cells (iPSCs) from patient fibroblasts to yield cell lines containing varying degrees of heteroplasmy for a m.13514 A > G mtDNA point mutation (2 lines) and for a ~6 kb single, large scale mtDNA deleti…

Presence of Type I-F CRISPR/Cas systems is associated with antimicrobial susceptibility in Escherichia coli Open

Seyid Aydin, Yoann Personne, Enas Newire, Rebecca Laverick, Oliver M. Russell , et al. · 2017

The CRISPR I-F system is more likely to be found in antimicrobial-susceptible E. coli . Given that the Type I-F system is expressed in WT isolates, we suggest that this difference could be due to the CRISPR system potentially interfering w…

Applying the Airbrakes: Treating Mitochondrial Disease with Hypoxia Open

Oliver M. Russell, Robert N. Lightowlers, Douglass M. Turnbull · 2016

A paper from Jain et al. (2016) using whole-genome CRISPR knockout libraries in human cells and models of mitochondrial disease suggests chronic hypoxia could be an unexpected treatment for disorders of mitochondrial respiration.

Potential compounds for the treatment of mitochondrial disease Open

Pratap G. Kenchappa, Oliver M. Russell, Robert N. Lightowlers, Douglass M. Turnbull · 2015

Drug development teams should continue to screen existing and novel compound libraries for therapeutics that can enhance mitochondrial function. Therapies for mitochondrial disorders could hold potential cures for a myriad of other ailment…

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