Details

Autor(en) / Beteiligte

• Safaei, Sepideh
• Houshmand, Massoud
• Banoei, Mohammad Mehdi
• Panahi, Mehdi Shafa Shariat
• Nafisi, Shahriar
• Parivar, Kazem
• Rostami, Maryam
• Shariati, Parvin

Titel

Mitochondrial tRNALeu/Lys and ATPase 6/8 Gene Variations in Spinocerebellar Ataxias

Ist Teil von

• Neuro-degenerative diseases, 2009-01, Vol.6 (1-2), p.16-22

Ort / Verlag

Basel, Switzerland: S. Karger AG

Erscheinungsjahr

2009

Quelle

MEDLINE

Beschreibungen/Notizen

• Background: The spinocerebellar ataxias (SCA) comprise a heterogeneous group of severe late-onset neurodegenerative diseases that are promoted by the expansion of a tandem-arrayed DNA sequence that modifies the primary structure of the protein. Methods: Genomic DNA of 20 patients affected with SCAs was extracted from peripheral blood and screened for deletions in mitochondrial DNA (mtDNA). Sequencing of tRNA Leu ,tRNA Lys , cytochrome oxidase II, ATPase 6/8 and NADH dehydrogenase I (NDI) genes belonging to mtDNA from patients with SCAs was also carried out to detect the presence of variations. Results: We identified cytosine-adenine-guanine (CAG) trinucleotide repeat expansions in 20 patients. Seven of these patients had at least one nucleotide change in mtDNA. In such cases, 5 nucleotide variations resulted in amino acid changes with two novel variations T8256G and G9010A. Conclusion: SCA patients showed high levels of mtDNA variations in lymphocytes. It can be proposed that the SCA gene proteins (Ataxins) are involved in the complicated intracellular mechanisms that affect cellular organelles and their components, such as the mitochondrial genome. The instability of CAG repeats in polyglutamine diseases such as SCAs and Huntington’s disease might be a causative factor in mtDNA variation or possible damage.