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Cell Journal، جلد ۲۰، شماره ۳، صفحات ۳۳۳-۳۳۹
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عنوان انگلیسی Mitochondrial Variants in Pompe Disease: A Comparison between Classic and Non-classic Forms
چکیده انگلیسی مقاله Objective: Pompe disease (PD) is a progressive neuromuscular disorder that caused by glucosidase acid alpha (GAA) mutations. Mitochondrial involvement is an important contributor in neuromuscular diseases. In this study Mt-ATPase 6/8 sequences and their expression, as well as Cytochrome C oxidase I/ II sequences were compared in classic and non-classic patients. Materials and methods: In the case-control study, Mt-ATPaes 6/8 and Cytochrome c oxidase sequence was analyzed by PCR-sequencing and expression of mt-ATPases were quantified by real time- PCR in 28 pompe patients. The results were compared with 100 controls; furthermore, all sequences were compared with the Cambridge reference sequence. Also in silico analysis was done. Results: Screening of Mt-ATPases 6/8 resulted in three -novel variants. There was a significant decrease in Mt.ATPase6 expression between classic, i.e., adult, and control groups (P= 0.030). Additionally the Mt.ATPase8 expression was significantly decreased in classic (P= 0.004) and non-classic, i.e., infant, patients (P=0.013). T9117A, A8456C and A8524C were reported as novel variants in Mt-ATPase6/8. Generally, 22 variants were observed in Cytochrome C oxidase, five of which were non-synonymous, one leads to a stop codon and C9227G was reported as a novel heteroplasmic variant. The A8302G in lysine tRNA gene was found in two brothers in a family. As well, a T7572C variant in the aspartate tRNA gene was observed in two brothers in the other family. Conclusion: Intensity of mitochondrial involvement in classic group was more severe than non-classic. Besides GAA mutations, it seems that mt.DNA variants have a secondary effect on pompe disease. Understanding, the role of mitochondria in pathogenesis of pompe can be potentially helpful in new therapeutic strategies.
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نویسندگان مقاله | Fatemeh Bahreini


| Massoud Houshmand


| Mohammad Hossein Modaresi


| Seyed Mohammad Akrami


نشانی اینترنتی http://celljournal.org/journal/article/abstract/5238
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