The multi-tissue landscape of somatic mtDNA mutations indicates tissue-specific accumulation and removal in aging

M Sanchez-Contreras, MT Sweetwyne, KA Tsantilas… - Elife, 2023 - elifesciences.org
Accumulation of somatic mutations in the mitochondrial genome (mtDNA) has long been
proposed as a possible mechanism of mitochondrial and tissue dysfunction that occurs …

Metastatic pattern of ovarian cancer delineated by tracing the evolution of mitochondrial DNA mutations

Z Xu, K Zhou, Z Wang, Y Liu, X Wang, T Gao… - … & Molecular Medicine, 2023 - nature.com
Ovarian cancer (OC) is the most lethal gynecologic tumor and is characterized by a high rate
of metastasis. Challenges in accurately delineating the metastatic pattern have greatly …

Somatic mutations in aging and disease

P Ren, J Zhang, J Vijg - GeroScience, 2024 - Springer
Time always leaves its mark, and our genome is no exception. Mutations in the genome of
somatic cells were first hypothesized to be the cause of aging in the 1950s, shortly after the …

NeMu: a comprehensive pipeline for accurate reconstruction of neutral mutation spectra from evolutionary data

B Efimenko, K Popadin, K Gunbin - Nucleic Acids Research, 2024 - academic.oup.com
The recognized importance of mutational spectra in molecular evolution is yet to be fully
exploited beyond human cancer studies and model organisms. The wealth of intraspecific …

[HTML][HTML] Quantifying human genome parameters in aging

VP Volobaev, SS Kunizheva, LI Uralsky… - Vavilov Journal of …, 2023 - ncbi.nlm.nih.gov
Healthy human longevity is a global goal of the world health system. Determining the causes
and processes influencing human longevity is the primary fundamental goal facing the …

Mitochondrial mutation spectrum in Chordates: damage versus replication signatures, causes, and dynamics

D Iliushchenko, B Efimenko, AG Mikhailova… - bioRxiv, 2023 - biorxiv.org
To elucidate the primary factors shaping mitochondrial DNA (mtDNA) mutagenesis, we
reconstructed a deep 192-component mtDNA mutational spectrum using 129,100 …

[PDF][PDF] Unravelling the Mitochondrial Mutational Landscape in Chordates: damage-induced versus replication-induced signatures, their Etiologies, and dynamics

D Iliushchenko, B Efimenko, AG Mikhailova… - bioRxiv, 2023 - researchgate.net
To elucidate the primary factors shaping mitochondrial DNA (mtDNA) mutagenesis, we
reconstructed a deep 192-component mtDNA mutational spectrum using 129,100 …

The mitochondrial challenge: Disorders and prevention strategies

E Korchivaia, Y Silaeva, I Mazunin, I Volodyaev - Biosystems, 2023 - Elsevier
This short review provides basic knowledge on mitochondrial inheritance, its disorders, and
potential ways to overcome them in human reproductive medicine. The latter are currently …

A Comparative Analysis of Mitochondrial Genome Mutation Spectra in Human Populations

BA Malyarchuk - Molecular Biology, 2023 - Springer
Nucleotide sequence variability of whole mitochondrial genomes (mtDNA) was analyzed
and mutation spectra were reconstructed (by L-chain of mtDNA) in four regional groups of …

Characterization of the Spectrum of Mitochondrial DNA Nucleotide Substitutions in Human Populations in High Altitude Environments

BA Malyarchuk - Russian Journal of Genetics, 2023 - Springer
Using phylogenetic analysis of the nucleotide sequences of whole mitochondrial genomes
(mtDNA), the spectra of germline nucleotide substitutions (on the L-chain of mtDNA) were …