Stochasticity in genetics and gene regulation

V van Heyningen - … Transactions of the Royal Society B, 2024 - royalsocietypublishing.org
Development from fertilized egg to functioning multi-cellular organism requires precision.
There is no precision, and often no survival, without plasticity. Plasticity is conferred partly by …

Cell-free circulating mitochondrial DNA: An emerging biomarker for airborne particulate matter associated with cardiovascular diseases

A Rehman, R Kumari, A Kamthan, R Tiwari… - Free Radical Biology …, 2023 - Elsevier
The association of airborne particulate matter exposure with the deteriorating function of the
cardiovascular system is fundamentally driven by the impairment of mitochondrial-nuclear …

Endocrine manifestations and new developments in mitochondrial disease

YS Ng, AZ Lim, G Panagiotou, DM Turnbull… - Endocrine …, 2022 - academic.oup.com
Mitochondrial diseases are a group of common inherited diseases causing disruption of
oxidative phosphorylation. Some patients with mitochondrial disease have endocrine …

REC drives recombination to repair double-strand breaks in animal mtDNA

A Klucnika, P Mu, J Jezek, M McCormack, Y Di… - Journal of Cell …, 2022 - rupress.org
Mechanisms that safeguard mitochondrial DNA (mtDNA) limit the accumulation of mutations
linked to mitochondrial and age-related diseases. Yet, pathways that repair double-strand …

[HTML][HTML] Treatment and prevention of pathological mitochondrial dysfunction in retinal degeneration and in photoreceptor injury

WH Moos, DV Faller, IP Glavas, DN Harpp… - Biochemical …, 2022 - Elsevier
Pathological deterioration of mitochondrial function is increasingly linked with multiple
degenerative illnesses as a mediator of a wide range of neurologic and age-related chronic …

[PDF][PDF] Mitochondrial protein synthesis and the bioenergetic cost of neurodevelopment

P Bülow, A Patgiri, V Faundez - Iscience, 2022 - cell.com
The human brain consumes five orders of magnitude more energy than the sun by unit of
mass and time. This staggering bioenergetic cost serves mostly synaptic transmission and …

[HTML][HTML] Clinical approaches for mitochondrial diseases

S Hong, S Kim, K Kim, H Lee - Cells, 2023 - mdpi.com
Mitochondria are subcontractors dedicated to energy production within cells. In human
mitochondria, almost all mitochondrial proteins originate from the nucleus, except for 13 …

[PDF][PDF] Extracellular vesicle mitochondrial DNA levels are associated with race and mitochondrial DNA haplogroup

AM Byappanahalli, V Omoniyi, NN Hooten, JT Smith… - Iscience, 2024 - cell.com
Circulating cell-free mitochondrial DNA (ccf-mtDNA) acts as a damage-associated molecular
pattern molecule and may be cargo within extracellular vesicles (EVs). ccf-mtDNA and select …

Penetrance and expressivity of mitochondrial variants in a large clinically unselected population

SJ Cannon, T Hall, G Hawkes… - Human Molecular …, 2024 - academic.oup.com
Whole genome sequencing (WGS) from large clinically unselected cohorts provides a
unique opportunity to assess the penetrance and expressivity of rare and/or known …

Generating mitochondrial-nuclear exchange (MNX) mice to identify mitochondrial determinants of cancer metastasis

DR Welch, MA Larson, CJ Vivian, JL Vivian - Cancer Systems and …, 2023 - Springer
Understanding the contributions of mitochondrial genetics to disease pathogenesis is
facilitated by a new and unique model—the mitochondrial-nuclear exchange mouse. Here …