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Showing 1 to 7 of 7 for “"mitochondrial genetics"”.

  1. Impact of mtDNA Signature on Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) Progression and Cardiometabolic Outcomes in Mice

    … are established contributors, variation in mitochondrial DNA (mtDNA) has been linked to differences in bioenergetic function, oxidative stress, and disease susceptibility. Given mitochondria’s central role in metabolism and their unique maternal genomes, mtDNA haplotypes, shaped by …

    queens Repository record for Impact of mtDNA Signature on Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) Progression and Cardiometabolic Outcomes in Mice (opens in a new tab)

  2. Consequences of Pathogenic Mitochondrial DNA Mutations in Cancer Progression

    Mitochondrial DNA (mtDNA) mutations are prevalent in human cancers; however, their functional impact on cancer progression remains controversial and uncertain. This uncertainty is primarily due to a lack of suitable models for controlled functional studies. This thesis addresses this limitation by …

    utswmed Repository record for Consequences of Pathogenic Mitochondrial DNA Mutations in Cancer Progression (opens in a new tab)

  3. Mitochondrial genetic variation in the evolution of humans and metabolism of cancer

    … mutation studies in cancer. These aspects of mitochondrial genetics form the two main foci of this thesis. Southern Africa is known to encompass the world’s greatest genomic diversity, and genetic, anthropological, and archaeological studies support the region as a candidate for the origin of …

    unsw Repository record for Mitochondrial genetic variation in the evolution of humans and metabolism of cancer (opens in a new tab)

  4. How to Mend a Broken Mitochondrial Genome: Mitochondrial Recombination And Its Applications

    … in the nucleus. mtDNA mutations are linked to mitochondrial and age-related diseases. Therefore, safeguarding mechanisms are crucial to limit mtDNA mutations and curtail ageing and disease. Yet, pathways that repair animal mtDNA double-strand breaks remain uncharacterised. Double-strand breaks …

    cambridge Repository record for How to Mend a Broken Mitochondrial Genome: Mitochondrial Recombination And Its Applications (opens in a new tab)

  5. EXPLORING THE MUTATIONAL LANDSCAPE OF MITOCHONDRIAL GENOME IN HEMATOLOGIC MALIGNANCIES

    … DLBCL exhibited a uniformly high burden of mitochondrial mutations, independent of nuclear alterations, while AML patients could be stratified into subgroups based on mtDNA mutational burden, with increased damage correlating with poorer overall survival. Furthermore, co-occurrence of mtDNA …

    milano Repository record for EXPLORING THE MUTATIONAL LANDSCAPE OF MITOCHONDRIAL GENOME IN HEMATOLOGIC MALIGNANCIES (opens in a new tab)

  6. The Molecular Anatomy of Mitochondrial Disease: Identification and Characterisation of Novel Nuclear-Encoded Mitochondrial Disease Genes

    Mitochondrial diseases are a group of clinically and genetically heterogeneous disorders typically associated with abnormal oxidative phosphorylation (OXPHOS). In recent years, next generation sequencing technologies have allowed for accurate genetic diagnoses of inherited mitochondrial diseases …

    cambridge Repository record for The Molecular Anatomy of Mitochondrial Disease: Identification and Characterisation of Novel Nuclear-Encoded Mitochondrial Disease Genes (opens in a new tab)