Sökning: "multiple mtDNA deletions"

Hittade 5 avhandlingar innehållade orden multiple mtDNA deletions.

1. 1. 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

3. 2. Functional and structural characterization of the human mitochondrial helicase

   Författare :Jenny Korhonen; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Mitochondria; mtDNA; replication; replisome; TWINKLE; mtSSB; POL g ; adPEO.;

   Sammanfattning : Mitochondria are the energy producing organelles of the eukaryotic cell. The human mitochondrial DNA (mtDNA) is a double stranded circular molecule of about 16 kb, usually present at 1000-10 000 copies per cell. The genome encodes 13 polypeptides involved in respiration, two ribosomal RNA s and a set of 22 transfer RNA s. LÄS MER

4. 3. lnclusion body myositis - Genetic, clinical, and epidemiological aspects

   Författare :Ulrika Lindgren; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; inclusion body myositis; mitochondrial DNA; epidemiology; cytochrome c oxidase; inflammatory myopathy;

   Sammanfattning : The inflammatory myopathy inclusion body myositis (IBM) is characterized by progressive muscle weakness and dysphagia in individuals over 45 years of age. Muscle biopsy shows inflammatory infiltrates, vacuoles with protein accumulation and cytochrome c oxidase (COX)-deficient muscle fibers. LÄS MER

5. 4. Molecular insights into mitochondrial DNA replication

   Författare :Javier Miralles Fusté; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Mitochondria are organelles found in eukaryotic cells. These organelles produce most of the adenosine triphosphate that cells use as a source of energy. Mitochondria contain their own genomic material, a circular DNA genome (mtDNA) that encodes subunits of the respiratory chain complexes and RNA components needed for mitochondrial translation. LÄS MER

7. 5. Genetic study of autosomal dominant progressive external ophthalmoplegia and familial myasthenia gravis : linkage analysis, candidate gene cloning and mutation detection

   Författare :Fang-Yuan Li; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Identification of genes responsible for familial human diseases is a major task of medical genetics. In this process, linkage analysis, candidate gene screening and mutation detection are the three major steps (Paper I-VI). LÄS MER