Sökning: "mtDNA mutations"

Visar resultat 1 - 5 av 34 avhandlingar innehållade orden mtDNA mutations.

  1. 1. Molecular and structural studies of proteins required for mitochondrial DNA maintenance

    Författare :Carlos Pardo-Hernandez; Göteborgs universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; mtDNA; LONP1; POLγ; mtDNA maintenance; mitochondrial disease; TWINKLE; mitochondria;

    Sammanfattning : Mitochondria are membrane-bound organelles that produce the majority of ATP used to drive metabolic processes in eukaryotic cells. A unique feature of mitochondria is the existence of a separate mitochondrial DNA (mtDNA), which codes for thirteen proteins needed for oxidative phosphorylation (OXPHOS). LÄS MER

  3. 2. Crisis in Energy Metabolism - Mitochondrial Defects and a New Disease Entity

    Författare :Gittan Kollberg; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Energy metabolism; Mitochondrial Disorders; mtDNA; multiple mtDNA deletions; Alpers-Huttenlocher syndrome; POLG1; GYS1; glycogen synthase; point mutation; Polymerase gamma;

    Sammanfattning : Impairment of energy metabolism may be associated with severe implications for affected individuals since all fundamental cell functions are energy-dependent. Disorders of energy metabolism are often genetic and associated with defects in the oxidative phosphorylation in mitochondria. LÄS MER

  4. 3. Role of mitochondria in early molecular diagnosis and prognosis of cancer

    Författare :Yanni Li; Allmänmedicin och klinisk epidemiologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cancer; mtDNA copy number; mitochondrial-related nuclear genes; mtDNA mutations; diagnosis; prognosis; biomarker;

    Sammanfattning : Background:Earlier clinical detection of cancer may improve survival as well as offer opportunities for less invasive treatment options. This thesis explores whether the mitochondria and its related genes in the nuclear genome can be used as novel methods for the diagnosis and prognosis of cancers. LÄS MER

  5. 4. Pathogenic mechanisms affecting mitochondrial DNA replication and transcription

    Författare :Meenakshi Singh; Göteborgs universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; mtDNA; ribonucleotides; nucleoside analogues; POLRMT;

    Sammanfattning : Mitochondria are cytoplasmic organelles fundamental to life and health. In mitochondria, energy from the food we eat is converted into adenosine triphosphate (ATP), which in turn is used as a source of chemical energy to drive a multitude of cellular reactions. LÄS MER

  7. 5. Evaluation of New Technologies for Forensic DNA Analysis

    Författare :Anna-Maria Divne; Marie Allen; Joakim Lundeberg; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; STR; SNP; SIDS; mtDNA; HVI HVII SSOP linear array; minisequencing; tag arrays; Pyrosequencing; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : DNA samples from crime scenes or mass disasters are often limited and degraded which limits the possibility of successful traditional STR analysis. Moreover, there is a need to decrease the turnaround time in criminal investigations. LÄS MER