Evolutionary perspectives on the links between mitochondrial genotype and disease phenotype

DK Dowling - Biochimica Et Biophysica Acta (BBA)-General Subjects, 2014 - Elsevier
Background Disorders of the mitochondrial respiratory chain are heterogeneous in their
symptoms and underlying genetics. Simple links between candidate mutations and …

Mitochondrial DNA copy number is regulated in a tissue specific manner by DNA methylation of the nuclear-encoded DNA polymerase gamma A

RDW Kelly, A Mahmud, M McKenzie… - Nucleic acids …, 2012 - academic.oup.com
DNA methylation is an essential mechanism controlling gene expression during
differentiation and development. We investigated the epigenetic regulation of the nuclear …

The effects of nuclear reprogramming on mitochondrial DNA replication

RDW Kelly, H Sumer, M McKenzie… - Stem Cell Reviews and …, 2013 - Springer
Undifferentiated mouse embryonic stem cells (ESCs) possess low numbers of mitochondrial
DNA (mtDNA), which encodes key subunits associated with the generation of ATP through …

Mitochondrial DNA haplotypes define gene expression patterns in pluripotent and differentiating embryonic stem cells

RDW Kelly, AE Rodda, A Dickinson, A Mahmud… - Stem Cells, 2013 - academic.oup.com
Mitochondrial DNA haplotypes are associated with various phenotypes, such as altered
susceptibility to disease, environmental adaptations, and aging. Accumulating evidence …

Random mutagenesis, clonal events, and embryonic or somatic origin determine the mtDNA variant type and load in human pluripotent stem cells

F Zambelli, J Mertens, D Dziedzicka, J Sterckx… - Stem Cell Reports, 2018 - cell.com
In this study, we deep-sequenced the mtDNA of human embryonic and induced pluripotent
stem cells (hESCs and hiPSCs) and their source cells and found that the majority of variants …

Additional mitochondrial DNA influences the interactions between the nuclear and mitochondrial genomes in a bovine embryo model of nuclear transfer

K Srirattana, JC St. John - Scientific Reports, 2018 - nature.com
We generated cattle embryos using mitochondrial supplementation and somatic cell nuclear
transfer (SCNT), named miNT, to determine how additional mitochondrial DNA (mtDNA) …

[HTML][HTML] Aged iPSCs display an uncommon mitochondrial appearance and fail to undergo in vitro neurogenesis

A Masotti, A Celluzzi, S Petrini, E Bertini… - Aging (Albany …, 2014 - ncbi.nlm.nih.gov
Reprogramming of human fibroblasts into induced pluripotent stem cells (iPSCs) leads to
mitochondrial rejuvenation, making iPSCs a candidate model to study the mitochondrial …

Transmission of dysfunctional mitochondrial DNA and its implications for mammalian reproduction

K Srirattana, JC St. John - Cellular and Molecular Basis of Mitochondrial …, 2019 - Springer
Mitochondrial DNA (mtDNA) encodes proteins for the electron transport chain which
produces the vast majority of cellular energy. MtDNA has its own replication and …

The role of mitochondrial DNA copy number, variants, and haplotypes in farm animal developmental outcome

T Tsai, JCS John - Domestic animal endocrinology, 2016 - Elsevier
The vast majority of cellular energy is generated through the process of oxidative
phosphorylation, which takes place in the electron transport chain in the mitochondria. The …

When numbers matters: mitochondrial DNA and gliomagenesis

E Barbieri, L Scorrano - Cell Death & Differentiation, 2013 - nature.com
Besides being crucial for cellular bioenergetics, mitochondria are key players in many
pathophysiological processes: from cell death to autophagy, immunity. 1 In cancer, not only …