Mitochondrial Copy Number and D-Loop Variants in Pompe Patients
| Autor: | fatemeh bahreini, Houshmand, Massoud, Modaresi, Mohammad Hossein, Tonekaboni, Hassan, Nafissi, Shahriar, Nazari, Ferdoss, Akrami, Seyed Mohammad |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Cell Journal, Vol 18, Iss 3, Pp 405-415 (2016) Scopus-Elsevier ResearcherID Cell Journal (Yakhteh) |
| ISSN: | 2228-5814 2228-5806 |
| Popis: | Objective Pompe 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 Methods In 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. Results Among 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 |
| Databáze: | OpenAIRE |
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