Yanchun Zhang's research works

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Fig 1. Associations between ΔmtDNA4977 copy number or proportion and symptom severity in patients with mitochondrial disease.
Panels a, c, and e indicate the younger group (<10 years old) and panels b, d, and f indicate the older group (10–20 years old). †: p < 0.05; ‡: p < 0.01; §: p < 0.001.

Table 1. Differences in total mtDNA copy number, ΔmtDNA4977 copy number, and the ratio ΔmtDNA4977 to total mtDNA in patients with mitochondrial disease (MCD) and healthy controls.

Fig 2. The correlation between lactic acidosis and proportion of ΔmtDNA4977 in 104cells, ΔmtDNA4977 copy number/104 cells, and total mtDNA copy number/cell in younger mitochondrial disease patients.

Table 2. Clinical manifestation frequencies in younger and older patients of mitochondrial diseases.

Table 3. The correlation between disease severity and ΔmtDNA4977 copy number/104 cells, total mtDNA copy number/cell, and proportion of ΔmtDNA4977 in cells in mitochondrial disease patients.

Deletion of a 4977-bp Fragment in the Mitochondrial Genome Is Associated with Mitochondrial Disease Severity

May 2015

106 Reads

23 Citations

PLOS ONE

[...]

Large deletions in mitochondrial DNA (mtDNA) may be involved in the pathogenesis of mitochondrial disease. In this study, we investigated the relationship between a 4,977-bp deletion in the mitochondrial genome (ΔmtDNA4977) and the severity of clinical symptoms in patients with mitochondrial disease lacking known point mutations. A total of 160 patients with mitochondrial disease and 101 healthy controls were recruited for this study. The copy numbers of ΔmtDNA4977 and wild-type mtDNA were determined by real-time quantitative PCR and analyzed using Spearman's bivariate correlation analysis, t-tests, or one-way ANOVA. The overall ΔmtDNA4977 copy number per cell and the proportion of mtDNA4977 relative to the total wild-type mtDNA, increased with patient age and symptom severity. Surprisingly, the total mtDNA copy number decreased with increasing symptom severity. Our analyses revealed that increases in the proportion and total copy number of ΔmtDNA4977 in the blood may be associated with disease severity in patients with mitochondrial dysfunction.

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... 37,38 Most of these deletions occur in a specific part of the mitochondrial genome named "common deletion," or "mtDNA 4977 ," which eliminates nucleotides between 8470 and 13447 of the mitochondrial genome. 39,40 Consequently, the destruction of about one-third of the whole mtDNA might be affected by this mutation. This particular mtDNA deletion is not selective for, but highly enriched in, IBM patients, being also seen in other conditions, including Alzheimer's disease, malignancies, ultraviolet lightinjured skin, autosomal dominant progressive external ophthalmoplegia, as well as in normal aging. ...
Reference:
The Emerging Role of Mitochondrial Dysfunction in the Pathogenesis of Idiopathic Inflammatory Myopathies

Deletion of a 4977-bp Fragment in the Mitochondrial Genome Is Associated with Mitochondrial Disease Severity

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May 2015

PLOS ONE

[...]

Yanchun Zhang's scientific contributions

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