Results 11 to 20 of about 2,304,173 (313)

Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion

Case Reports in Genetics, 2021
Mitochondrial DNA (mtDNA) depletion syndromes are a group of autosomal recessive disorders associated with a spectrum of clinical diseases, which include progressive external ophthalmoplegia (PEO).
Justin Kurtz, Joseph Americo Fernandes, Mahesh Mansukhani, William C. Copeland, Ali B. Naini   +4 more
doaj   +1 more source

Effective differentiation of double negative thymocytes requires high fidelity replication of mitochondrial DNA in an age dependent manner

Frontiers in Immunology, 2023
One of the most proliferative periods for T cells occurs during their development in the thymus. Increased DNA replication can result in increased DNA mutations in the nuclear genome, but also in mitochondrial genomes.
Candice B. Limper, Narda Bondah, Daphne Zhu, Alanis N. Villanueva, Uchenna K. Chukwukere, Weishan Huang, Weishan Huang, Avery August, Avery August   +8 more
doaj   +1 more source

Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging

Genome Biology, 2020
Background Acquired human mitochondrial genome (mtDNA) deletions are symptoms and drivers of focal mitochondrial respiratory deficiency, a pathological hallmark of aging and late-onset mitochondrial disease.
Scott A. Lujan, Matthew J. Longley, Margaret H. Humble, Christopher A. Lavender, Adam Burkholder, Emma L. Blakely, Charlotte L. Alston, Grainne S. Gorman, Doug M. Turnbull, Robert McFarland, Robert W. Taylor, Thomas A. Kunkel, William C. Copeland   +12 more
doaj   +1 more source

The Mighty NUMT: Mitochondrial DNA Flexing Its Code in the Nuclear Genome

Biomolecules, 2023
Nuclear-mitochondrial DNA segments (NUMTs) are mitochondrial DNA (mtDNA) fragments that have been inserted into the nuclear genome. Some NUMTs are common within the human population but most NUMTs are rare and specific to individuals. NUMTs range in size
Liying Xue, Jesse D. Moreira, Karan K. Smith, Jessica L. Fetterman   +3 more
doaj   +1 more source

Whole Mitochondrial Genome Analysis in Turkish Patients With Mitochondrial Diseases

Balkan Medical Journal, 2022
Background: Mitochondrial diseases are a clinically heterogeneous group of rare hereditary disorders that are defined by a genetic defect predominantly affecting mitochondrial oxidative phosphorylation.
Emine Begüm Gencer Öncül, Duygu Duman, Fatma Tuba Eminoğlu, Süleyman Aktuna, Mustafa Türker Duman   +4 more
doaj   +1 more source

35 Years of TFAM Research: Old Protein, New Puzzles

Biology, 2023
Transcription Factor A Mitochondrial (TFAM), through its contributions to mtDNA maintenance and expression, is essential for cellular bioenergetics and, therefore, for the very survival of cells.
Natalya Kozhukhar, Mikhail F. Alexeyev
doaj   +1 more source

The Mitochondrial Response to DNA Damage

Frontiers in Cell and Developmental Biology, 2021
Mitochondria are double membrane organelles in eukaryotic cells that provide energy by generating adenosine triphosphate (ATP) through oxidative phosphorylation. They are crucial to many aspects of cellular metabolism.
Ziye Rong, Peipei Tu, Peiqi Xu, Yan Sun, Fangfang Yu, Na Tu, Lixia Guo, Yanan Yang   +7 more
doaj   +1 more source

Spermatozoon and mitochondrial DNA [PDF]

Reproductive Medicine and Biology, 2002
In eukaryotic cells, mitochondria are the major site of ATP production, which is achieved through the electron‐transport chain and oxidative phosphorylation, according to the energy demand. Mitochondria contain their own genome (mitochondrial DNA, mtDNA) on which a limited number of genes are encoded. In the human sperm, mitochondria helically wrap the
Shuji, Hirata, Kazuhiko, Hoshi, Tomoko, Shoda, Tadashi, Mabuchi   +3 more
openaire   +2 more sources

Genome-wide characterization of mitochondrial DNA methylation in human brain

Frontiers in Endocrinology, 2023
BackgroundThere is growing interest in the role of DNA methylation in regulating the transcription of mitochondrial genes, particularly in brain disorders characterized by mitochondrial dysfunction.
Matthew Devall, Darren M. Soanes, Adam R. Smith, Emma L. Dempster, Rebecca G. Smith, Joe Burrage, Artemis Iatrou, Eilis Hannon, Claire Troakes, Karen Moore, Paul O’Neill, Safa Al-Sarraj, Leonard Schalkwyk, Jonathan Mill, Michael Weedon, Katie Lunnon   +15 more
doaj   +1 more source

The accessory subunit of mitochondrial DNA polymerase {gamma} determines the DNA content of mitochondrial nucleoids in human cultured cells [PDF]

, 2009
The accessory subunit of mitochondrial DNA polymerase γ, POLGβ, functions as a processivity factor in vitro. Here we show POLGβ has additional roles in mitochondrial DNA metabolism.
H. Sembongi, T. Yasukawa, Yasukawa, T, Di Re, M., I. J. Holt, L. J. Bailey, Fersht, A.R., Boyd-Kirkup, JD, Martinsson, P., Holt, I.J., J. N. Spelbrink, Sembongi, H, Spelbrink, JN, Bailey, LJ, Sembongi, H., Goffart, S, P. Martinsson, A. R. Fersht, Di Re, M, Martinsson, P, Reyes, A., J. D. Boyd-kirkup, S. Goffart, Bailey, L.J., Fersht, AR, Wong, TS, T. S. Wong, Reyes, A, M. Di Re, Holt, IJ, J. He, He, J., Goffart, S., A. Reyes, Boyd-Kirkup, J.D., Wong, T.S., He, J, Yasukawa, T., Spelbrink, J.N.   +38 more
core   +2 more sources