Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8399363 | Mitochondrion | 2014 | 8 Pages |
Abstract
Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by movement disorder, cognitive symptoms and psychiatric symptoms with predominantly adult-onset. The mutant huntingtin protein leads to mitochondrial dysfunction in blood leukocytes. This discovery led to the investigation of the mitochondrial DNA (mtDNA) copy number relative to nuclear DNA (nDNA) in leukocytes from carriers of the HD mutation compared to healthy individuals. We found significantly reduced mtDNA/nDNA in HD mutation carriers compared to controls. A longitudinal study of archive DNA sample pairs from HD patients revealed a biphasic pattern of increasing mtDNA/nDNA before onset of motor symptoms and decreasing mtDNA/nDNA after.
Keywords
transcription factor A, mitochondrialqPCRMitochondrial DNA copy numberTFAMAAOPGC-1αnDNAMitochondrial DNANuclear DNAHuntington's diseasestandard error of the meanCNSBiphasicmtDNAAge at onsetcentral nervous systemconfidence intervalSEMwild typequantitative polymerase chain reactionperoxisome proliferator-activated receptor gamma coactivator 1 alpha
Related Topics
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Biochemistry, Genetics and Molecular Biology
Biophysics
Authors
Maria Hvidberg Petersen, Esben Budtz-Jørgensen, Sven Asger Sørensen, Jørgen Erik Nielsen, Lena Elisabeth Hjermind, Tua Vinther-Jensen, Signe Marie Borch Nielsen, Anne Nørremølle,