Investigation of tRNA(Leu/Lys) and ATPase 6 genes mutations in Huntington's disease
| Autor: | Mohammad Bahar, Solmaz Etemad Ahari, Mostafa Moin, Sadaf Kasraie, Mohammad Mehdi Banoei, Massoud Houshmand, Parvin Shariati, Mehdi Shafa Shariat Panahi |
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| Rok vydání: | 2007 |
| Předmět: |
Mitochondrial DNA
Huntingtin Mitochondrial Diseases Mitochondrial disease DNA Mutational Analysis Biology Mitochondrion Gene mutation medicine.disease_cause DNA Mitochondrial Cellular and Molecular Neuroscience Huntington's disease RNA Transfer Leucine medicine Humans Genetic Predisposition to Disease Genetic Testing Gene Genetics Adenosine Triphosphatases Mutation Lysine Cell Biology General Medicine medicine.disease Molecular biology Huntington Disease Amino Acid Substitution DNA Damage |
| Zdroj: | Cellular and molecular neurobiology. 28(7) |
| ISSN: | 1573-6830 |
| Popis: | Huntington disease (HD) is a genetically dominant condition caused by expanded CAG repeats which code for glutamine in the HD gene product, huntingtin. Huntingtin is expressed in almost all tissues, so abnormalities outside the brain can also be expected. Involvement of nuclei and mitochondria in HD pathophysiology has been suggested. In fact mitochondrial dysfunction is reported in brains of patients suffering from HD. The tRNA gene mutations are one of hot spots that can cause mitochondrial disorders. In this study, possible mitochondrial DNA (mtDNA) damage was evaluated by screening for mutations in the tRNA(leu/lys) and ATPase 6 genes of 20 patients with HD, using PCR and automated DNA sequencing. Mutations including an A8656G mutation in one patient were observed, which may be causal to the disease. Understanding the role of mitochondria in the pathogenesis of neurodegenerative diseases could potentially be important for the development of therapeutic strategies in HD. |
| Databáze: | OpenAIRE |
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