%0 Journal Article %T Mitochondrial Copy Number and D-Loop Variants in Pompe Patients %J Cell Journal (Yakhteh) %I Royan Institute, Iranian Academic Center for Education Culture and Research (ACECR) %Z 2228-5806 %A Bahreini, Fatemeh %A Houshmand, Massoud %A Modaresi, Mohammad Hossein %A Tonekaboni, Hassan %A Nafissi, Shahriar %A Nazari, Ferdoss %A Akrami, Seyed Mohammad %D 2016 %\ 08/01/2016 %V 18 %N 3 %P 405-415 %! Mitochondrial Copy Number and D-Loop Variants in Pompe Patients %K Pompe %K Mitochondrial DNA %K d %K Loop %K Copy Number %R 10.22074/cellj.2016.4569 %X ObjectivePompe disease is a rare neuromuscular genetic disorder and is classified into two forms of early and late-onset. Over the past two decades, mitochondrial abnor- malities have been recognized as an important contributor to an array of neuromuscular diseases. We therefore aimed to compare mitochondrial copy number and mitochondrial displacement-loop sequence variation in infantile and adult Pompe patients. Materials and MethodsIn this retrospective study, the mitochondrial D-loop sequence was analyzed by polymerase chain reaction (PCR) and direct sequencing to detect pos- sible variation in 28 Pompe patients (17 infants and 11 adults). Results were compared with 100 healthy controls and sequences of all individuals were compared with the Cam- bridge reference sequence. Real-time PCR was used to quantify mitochondrial DNA copy number. ResultsAmong 59 variants identified, 37(62.71%) were present in the infant group, 14(23.333%) in the adult group and 8(13.333%) in both groups. Mitochondrial copy number in infant patients was lower than adults (P < 0.05). A significant frequency differ- ence was seen between the two groups for 12 single nucleotide polymorphism (SNP). A novel insertion (317-318 ins CCC) was observed in patients and six SNPs were iden- tified as neutral variants in controls. There was an inverse association between mito- chondrial copy number and D-loop variant number (r=0.54). ConclusionThe 317-318 ins CCC was detected as a new mitochondrial variant in Pompe patients. %U https://www.celljournal.org/article_250386_34c16956c685f5757e616133bc9905b5.pdf