Mitochondrial Copy Number and D-Loop Variants in Pompe Patients

Journal Title: Cell Journal(Yakhteh) - Year 2016, Vol 18, Issue 3

Abstract

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<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). Conclusion The 317-318 ins CCC was detected as a new mitochondrial variant in Pompe patients.

Authors and Affiliations

Seyed Mohammad Akrami

Keywords

Related Articles

Evaluating Electroporation and Lipofectamine Approaches for Transient and Stable Transgene Expressions in Human Fibroblasts and Embryonic Stem Cells

Objective: Genetic modification of human embryonic stem cells (hESCs) is critical for their extensive use as a fundamental tool for cell therapy and basic research. Despite the fact that various methods such as lipofecti...

Direct Coculture of Human Chondrocytes and Synovium-Derived Stem Cells Enhances In Vitro Chondrogenesis

Objective: Coculture of chondrocytes and mesenchymal stem cells (MSCs) has been developed as a strategy to overcome the dedifferentiation of chondrocytes during in vitro expansion in autologous chondrocyte transplantatio...

Advanced Glycation End-Products-, C-Type Lectin- and Cysteinyl/ Leukotriene-Receptors in Distinct Mesenchymal Stromal Cell Populations: Differential Transcriptional Profiles in Response to Inflammation

Objective: We aimed at characterizing the transcription profiles of immunological receptors associated with the biology of mesenchymal stromal cells (MSCs). Materials and Methods: In this experimental study, quantitative...

Analysis of Transforming Growth Factor- β1 Expression in Resorptive Lacunae following Orthodontic Tooth Movement in An Animal Model

Objective: Root resorption is a complication of orthodontic treatment and till date, there is a dearth of information regarding this issue. The aim of this study was to determine whether the expression of transforming gr...

In Vitro Differentiation of Neural-Like Cells from Human Embryonic Stem Cells by A Combination of Dorsomorphin, XAV939, and A8301

Objective: Motor neuron differentiation from human embryonic stem cells (hESCs) is a goal of regenerative medicine to provide cell therapy as treatments for diseases that damage motor neurons. Most protocols lack adequat...

Download PDF file
  • EP ID EP553204
  • DOI 10.22074/cellj.2016.4569
  • Views 135
  • Downloads 0

How To Cite

Seyed Mohammad Akrami (2016). Mitochondrial Copy Number and D-Loop Variants in Pompe Patients. Cell Journal(Yakhteh), 18(3), 405-415. https://europub.co.uk/articles/-A-553204