ArticleArchives of medical science : AMS2011
Investigation of tRNA and ATPase 6/8 gene mutations in Iranian ataxia telangiectasia patients.
Article in Archives of medical science : AMS, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 9 citations in OpenAlex.
- mRNA expression profiling of mitochondrial subunits in subjects with Parkinson's disease.Archives of medical science : AMS · 2023Article
- Mitochondrial Variants in Pompe Disease: A Comparison between Classic and Non-Classic Forms.Cell journal · 2018Article
- The mitochondrial ATPase6 gene is more susceptible to mutation than the ATPase8 gene in breast cancer patients.Cancer cell international · 2014Article
- Investigation of the Mitochondrial ATPase 6/8 and tRNA(Lys) Genes Mutations in Autism.Cell journal · 2012Article
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Authors and funding
6 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionAtaxia telangiectasia (AT) is a rare human neurodegenerative autosomal recessive multisystem disease. AT is the result of mutations in the AT-mutated (ATM) gene. ATM protein is required for radiation-induced apoptosis and acts before mitochondrial collapse. The tRNA genes are considered one of the hot spots for mutations causing mitochondrial disorders. Due to the important role of ATM in apoptosis and its effect on the cell cycle it might be possible that it has a central role in mtDNA mutations. On the other hand, the tRNA(Lys/Leu) gene and also ATPase6 and ATPase8 genes are important for many mitochondrial diseases and many causative mutations have been reported from these genes. MATERIAL AND
methodsIn the present research, we performed mutation screening for these genes in 20 patients who were diagnosed with ataxia telangiectasia by a PCR sequencing method.
resultsThe results showed a significant level of mtDNA variations in AT patients. Among 20 patients in this study, 12 patients (60%) were detected with point mutations, among which 8 mutations (40%) belonged to the MT-ATP6 gene. There was probably a second effect of mtDNA mutations in AT disease and mtDNA plays a main role in establishment of AT.
conclusionsMtDNA mutations might be responsible for the decline of mitochondrial function in AT patients. Mitochondrial investigation can help to understand the mechanism of damage in AT disease.
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