Sökning: "mitochondrial cardiomyopathy"

Visar resultat 1 - 5 av 10 avhandlingar innehållade orden mitochondrial cardiomyopathy.

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. Life without mitochondrial DNA : studies of transgenic mice

   Författare :Jianming Wang; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :mitochondrial disease; mitochondrial DNA mtDNA ; mitochondrial transcripton factor A Tfam ; cre-loxP; conditional knockout; transgenic; mitochondrial cardiomyopathy; apoptosis;

   Sammanfattning : Mitochondrial DNA (mtDNA) is a closed circular DNA genome that resides in the mitochondrial network. Mutations of mtDNA cause spontaneous and hereditary disorders known as mitochondrial diseases. Mitochondrial transcription factor A (Tfam) is a key factor for transcription of mtDNA in vitro. LÄS MER

4. 3. Regulation of mitochondrial gene expression in metazoa

   Författare :Ana Bratic; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Drosophila melanogaster; ;

   Sammanfattning : Mitochondria are essential organelles of eukaryotic cells and their main function is to provide the cell with the ubiquitously used energy currency ATP. Impaired energy conversion caused by mitochondrial dysfunction is a direct cause of several human diseases. LÄS MER

5. 4. Cellular responses to respiratory chain dysfunction

   Författare :Anna Hansson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Mitochondria; TFAM; cardiomyopathy; aging; reactive oxygen species ROS ;

   Sammanfattning : Mitochondria are network-like organelles present in most mammalian cells. They contain the respiratory chain (RC) that produces the majority of the energy needed in the cell, in the form of ATP. RC deficiency can arise due to mutations in the mitochondrial DNA (mtDNA) or in nuclear genes encoding mitochondrial proteins. LÄS MER

7. 5. From gene mutation to gene expression : studies on multiple endocrine neoplasia type 1 and vascular endothelial growth factors

   Författare :Emma Tham; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Multiple endocrine neoplasia type 1; mutation detection; Vascular Endothelial Growth Factors; recombinant protein; dilated cardiomyopathy; multiple sclerosis;

   Sammanfattning : Multiple Endocrine Neoplasia type 1, MEN1, is an inherited cancer syndrome whose gene was localised to chromosome 11q13 in 1988. A number of !candidate genes were characterised before the MEN1 gene was cloned in 1997. DNA sequencing of MEN1 to search for mutations in patients is used as a complement to clinical diagnosis. LÄS MER