期刊
SCIENTIFIC REPORTS
卷 5, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/srep09906
关键词
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资金
- Wellcome Trust Centre for Mitochondrial Research [G906919]
- Newcastle University Centre for Ageing and Vitality
- MRC Centre for Neuromuscular Disease [G000608-1]
- MRC Centre for Translational Research in Neuromuscular Disease Mitochondrial Disease Patient Cohort (UK) [G0800674]
- Lily Foundation
- Medical Research Council [M501700]
- Biotechnology and Biological Sciences Research Council
- UK NIHR Biomedical Research Centre
- UK NHS Specialist Commissioners Rare Mitochondrial Disorders of Adults and Children Service
- Wellcome Trust [090194/Z/09/Z]
- MRC [G0700718, MR/K000608/1, G0900652, G0800674, G0502157, G0400074, G1100540, MR/L016451/1, MR/K006312/1] Funding Source: UKRI
- Wellcome Trust [090194/Z/09/Z] Funding Source: Wellcome Trust
- Medical Research Council [MR/K000608/1, G0900652, MR/L016451/1, G1100540, MR/K006312/1, G0700718, G0800674, G0400074, G0502157] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0510-10187] Funding Source: researchfish
Mitochondrial DNA (mtDNA) mutations are commonly found in the skeletal muscle of patients with mitochondrial disease, inflammatory myopathies and sarcopenia. The majority of these mutations are mtDNA deletions, which accumulate to high levels in individual muscle fibres causing a respiratory defect. Most mtDNA deletions are major arc deletions with breakpoints located between the origin of light strand (OL) and heavy strand (OH) replication within the major arc. However, under certain disease conditions, rarer, minor arc deletions are detected. Currently, there are few techniques which would allow the detection and quantification of both types of mtDNA deletions in single muscle fibres. We have designed a novel triplex real-time PCR assay which simultaneously amplifies the MT-ND4 gene in the major arc, the MT-ND1 gene in the minor arc, and the non-coding D-Loop region. We demonstrate that this assay is a highly sensitive and reliable tool for the detection and quantification of a broad range of major and minor arc mtDNA deletions with the potential to investigate the molecular pathogenesis in both research and diagnostic settings.
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