[HTML][HTML] Thinking outside the nucleus: Mitochondrial DNA copy number in health and disease
Mitochondrial DNA copy number (mtDNA-CN) is a biomarker of mitochondrial function and
levels of mtDNA-CN have been reproducibly associated with overall mortality and a number …
levels of mtDNA-CN have been reproducibly associated with overall mortality and a number …
Mitochondrial diseases: a diagnostic revolution
Mitochondrial disorders have emerged as a common cause of inherited disease, but are
traditionally viewed as being difficult to diagnose clinically, and even more difficult to …
traditionally viewed as being difficult to diagnose clinically, and even more difficult to …
Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells
CA Lareau, SM Dubois, FA Buquicchio, YH Hsieh… - Nature …, 2023 - nature.com
Pathogenic mutations in mitochondrial DNA (mtDNA) compromise cellular metabolism,
contributing to cellular heterogeneity and disease. Diverse mutations are associated with …
contributing to cellular heterogeneity and disease. Diverse mutations are associated with …
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases
Patients with primary mitochondrial oxidative phosphorylation (OxPhos) defects present with
fatigue and multi-system disorders, are often lean, and die prematurely, but the mechanistic …
fatigue and multi-system disorders, are often lean, and die prematurely, but the mechanistic …
[HTML][HTML] Cellular allostatic load is linked to increased energy expenditure and accelerated biological aging
Stress triggers anticipatory physiological responses that promote survival, a phenomenon
termed allostasis. However, the chronic activation of energy-dependent allostatic responses …
termed allostasis. However, the chronic activation of energy-dependent allostatic responses …
A multi-omics longitudinal aging dataset in primary human fibroblasts with mitochondrial perturbations
Aging is a process of progressive change. To develop biological models of aging,
longitudinal datasets with high temporal resolution are needed. Here we report a multi …
longitudinal datasets with high temporal resolution are needed. Here we report a multi …
Comprehensive summary of mitochondrial DNA alterations in the postmortem human brain: A systematic review
Summary Background Mitochondrial DNA (mtDNA) encodes 37 genes necessary for
synthesizing 13 essential subunits of the oxidative phosphorylation system. mtDNA …
synthesizing 13 essential subunits of the oxidative phosphorylation system. mtDNA …
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions
C Frascarelli, N Zanetti, A Nasca, R Izzo… - Frontiers in …, 2023 - frontiersin.org
Primary mitochondrial diseases are progressive genetic disorders affecting multiple organs
and characterized by mitochondrial dysfunction. These disorders can be caused by …
and characterized by mitochondrial dysfunction. These disorders can be caused by …
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
C Piro-Mégy, E Sarzi, A Tarrés-Solé… - The Journal of …, 2020 - Am Soc Clin Investig
Mutations in genes encoding components of the mitochondrial DNA (mtDNA) replication
machinery cause mtDNA depletion syndromes (MDSs), which associate ocular features with …
machinery cause mtDNA depletion syndromes (MDSs), which associate ocular features with …
Mitochondrial DNA deletion mutations increase exponentially with age in human skeletal muscle
A Herbst, CC Lee, AR Vandiver, JM Aiken… - Aging clinical and …, 2021 - Springer
Abstract Background Mitochondrial DNA (mtDNA) deletion mutations lead to electron
transport chain-deficient cells and age-induced cell loss in multiple tissues and mammalian …
transport chain-deficient cells and age-induced cell loss in multiple tissues and mammalian …