“Mitochondrial pathogenic mutations and metabolic alterations associated with COVID‐19 disease severity”
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Medical Virology"
DOI: 10.1002/jmv.28553
Abstract: The severe acute respiratory syndrome coronavirus‐2 (SARS‐CoV‐2) caused global pandemic and drastically affected the humankind. Mitochondrial mutations have been found to be associated with several respiratory diseases. Missense mutation and pathogenic mitochondrial variants might unveil… read more here.
Keywords: associated covid; covid disease; disease severity; mtdna mutations ... See more keywords
What Can Mitochondrial DNA Analysis Tell Us About Mood Disorders?
Sign Up to like & getrecommendations! Published in 2018 at "Biological Psychiatry"
DOI: 10.1016/j.biopsych.2017.09.010
Abstract: Variants in mitochondrial DNA (mtDNA) and nuclear genes encoding mitochondrial proteins in bipolar disorder, depression, or other psychiatric disorders have been studied for decades, since mitochondrial dysfunction was first suggested in the brains of patients… read more here.
Keywords: analysis; mood disorders; mtdna mutations; mood ... See more keywords
OXPHOS Defects Due to mtDNA Mutations: Glutamine to the Rescue!
Sign Up to like & getrecommendations! Published in 2018 at "Cell metabolism"
DOI: 10.1016/j.cmet.2018.05.010
Abstract: Mutations in mtDNA associated with OXPHOS defects preclude energy harnessing by OXPHOS. The work of Chen et al. (2018) is previewed, reporting flux pathways of glutamine catabolism in mtDNA mutant cells yielding high-energy phosphates through substrate-level… read more here.
Keywords: glutamine rescue; due mtdna; defects due; oxphos defects ... See more keywords
Mitochondrial DNA mutations do not impact early human embryonic development.
Sign Up to like & getrecommendations! Published in 2021 at "Mitochondrion"
DOI: 10.1016/j.mito.2021.02.012
Abstract: Mitochondrial DNA (mtDNA) mutations cause severe maternally inherited disorders, although mechanisms regulating mother-to-offspring transmission have not yet been elucidated. To investigate if mtDNA mutations affect embryonic development, we compared morphology, viability and mtDNA content in… read more here.
Keywords: mtdna mutations; mitochondrial dna; embryonic development; mtdna ... See more keywords
MtDNA mutations and aging—not a closed case after all?
Sign Up to like & getrecommendations! Published in 2021 at "Signal Transduction and Targeted Therapy"
DOI: 10.1038/s41392-021-00479-6
Abstract: In a recent paper in Nature Cancer, Smith et al. demonstrate that mitochondrial DNA (mtDNA) mutations can confer a growth advantage to intestinal tumors by remodeling cell metabolism, particularly toward elevated de novo serine synthesis.… read more here.
Keywords: smith; mtdna; mutations aging; cancer ... See more keywords
What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?
Sign Up to like & getrecommendations! Published in 2019 at "Evolutionary Applications"
DOI: 10.1111/eva.12851
Abstract: Mitochondrial disorders are heterogeneous, showing variable presentation and penetrance. Over the last three decades, our ability to recognize mitochondrial patients and diagnose these mutations, linking genotype to phenotype, has greatly improved. However, it has become… read more here.
Keywords: mtdna; point mutations; disease; mtdna mutations ... See more keywords
Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies.
Sign Up to like & getrecommendations! Published in 2019 at "Cancer research"
DOI: 10.1158/0008-5472.can-18-2220
Abstract: Little is known about the spectrum of mitochondrial DNA (mtDNA) mutations across pediatric malignancies. In this study, we analyzed matched tumor and normal whole genome sequencing data from 616 pediatric patients with hematopoietic malignancies, solid… read more here.
Keywords: landscape germline; pediatric malignancies; mtdna; mitochondrial dna ... See more keywords
Mitochondrial DNA Mutations are Associated with Ulcerative Colitis Preneoplasia but Tend to be Negatively Selected in Cancer
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Cancer Research"
DOI: 10.1158/1541-7786.mcr-18-0520
Abstract: The role of mitochondrial DNA (mtDNA) mutations in cancer remains controversial. Ulcerative colitis is an inflammatory bowel disease that increases the risk of colorectal cancer and involves mitochondrial dysfunction, making it an ideal model to… read more here.
Keywords: mitochondrial dna; colitis; ulcerative colitis; cancer ... See more keywords
Mitochondrial mutations in maternally inherited hearing loss
Sign Up to like & getrecommendations! Published in 2017 at "BMC Medical Genetics"
DOI: 10.1186/s12881-017-0389-4
Abstract: BackgroundAlthough the mitochondrial DNA (mtDNA) mutations m.1555A > G and m.3243A > G are the primary causes of maternally inherited sensorineural hearing loss (SNHL), several other mtDNA mutations are also reported to be associated with SNHL.MethodsScreening of m.1555A > G and… read more here.
Keywords: hearing loss; maternally inherited; snhl; mtdna mutations ... See more keywords
Response to Simon et al.,
Sign Up to like & getrecommendations! Published in 2017 at "Acta Neuropathologica Communications"
DOI: 10.1186/s40478-017-0434-8
Abstract: As Simon et al., note, our study [1] was not designed to study low levels of heteroplasmic mitochondrial DNA (mtDNA) variants within specific cell types (such as in the Substantia nigra). In addition, Parkinson’s disease… read more here.
Keywords: response simon; mtdna; disease; substantia nigra ... See more keywords
Targeting Mitochondrial Function with Chemoptogenetics
Sign Up to like & getrecommendations! Published in 2022 at "Biomedicines"
DOI: 10.3390/biomedicines10102459
Abstract: Mitochondria are ATP-generating organelles in eukaryotic cells that produce reactive oxygen species (ROS) during oxidative phosphorylation (OXPHOS). Mitochondrial DNA (mtDNA) is packaged within nucleoids and, due to its close proximity to ROS production, endures oxidative… read more here.
Keywords: damage; mitochondrial function; mtdna mutations; ros ... See more keywords