Real-time assessment of mitochondrial DNA heteroplasmy dynamics at the single-cell level

R Roussou, D Metzler, F Padovani, F Thoma… - The EMBO …, 2024 - embopress.org
Mitochondrial DNA (mtDNA) is present in multiple copies within cells and is required for
mitochondrial ATP generation. Even within individual cells, mtDNA copies can differ in their …

ENZYMATIC TOOLS FOR MITOCHONDRIAL GENOME MANIPULATION

B Rimskaya, N Shebanov, N Entelis, I Mazunin - Biochimie, 2024 - Elsevier
Mutations in mitochondrial DNA (mtDNA) can manifest phenotypically as a wide range of
neuromuscular and neurodegenerative pathologies that are currently only managed …

Unconstrained precision mitochondrial genome editing with αDdCBEs

SR Castillo, BW Simone, KJ Clark, P Devaux… - Human gene …, 2024 - liebertpub.com
DddA-derived cytosine base editors (DdCBEs) enable the targeted introduction of C• G-to-T•
A conversions in mitochondrial DNA (mtDNA). DdCBEs work in pairs, with each arm …

Comprehensive phenotypic assessment of nonsense mutations in mitochondrial ND5 in mice

S Kim, SG Park, J Kim, S Hong, SM Cho… - … & Molecular Medicine, 2024 - nature.com
Mitochondrial dysfunction induced by mitochondrial DNA (mtDNA) mutations has been
implicated in various human diseases. A comprehensive analysis of mitochondrial genetic …

Single-cell atlas reveals multi-faced responses of losartan on tubular mitochondria in diabetic kidney disease

Z Zhu, G Luan, S Wu, Y Song, S Shen, K Wu… - Journal of Translational …, 2025 - Springer
Abstract Background and Objective Mitochondria are crucial to the function of renal tubular
cells, and their dynamic perturbation in many aspects is an important mechanism of diabetic …

Fit for purpose: Selecting the best mitochondrial DNA for the job

SJ Pickett, RW Taylor, R McFarland - Cell Metabolism, 2024 - Elsevier
The factors determining levels of pathogenic mitochondrial DNA in cells and tissues are
critical to disease pathology but remain poorly understood and contentious. In Nature, Kotrys …

Heteroplasmy in action: tracking mtDNA segregation dynamics

N Dua, A Badrinarayanan - The EMBO Journal, 2024 - embopress.org
Difficulties in tracking the dynamics of heteroplasmy, a state when a single cell contains
distinct mtDNA genotypes, have left our understanding of factors influencing it incomplete …

DNA Repair Pathways in the Mitochondria

DE King, WC Copeland - DNA repair, 2025 - Elsevier
Mitochondria contain their own small, circular genome that is present in high copy number.
The mitochondrial genome (mtDNA) encodes essential subunits of the electron transport …

Human stem cell-specific epigenetic signatures control transgene expression

CS Kwak, FE Oflaz, J Qiu, X Wang - Biochimica et Biophysica Acta (BBA) …, 2024 - Elsevier
Human stem cell-derived models have emerged as an important platform to study tissue
differentiation and disease mechanisms. Those models could capitalize on biochemical and …

Robustness and reliability of single-cell regulatory multi-omics with deep mitochondrial mutation profiling

C Weng, JS Weissman, VG Sankaran - bioRxiv, 2024 - pmc.ncbi.nlm.nih.gov
The detection of mitochondrial DNA (mtDNA) mutations in single cells holds considerable
potential to define clonal relationships coupled with information on cell state in humans …