Abstract
We studied the cellular distribution of both deleted (Δ) and wild-type (wt) mitochondrial DNAs (mtDNAs) in 'normal' and respiration-deficient muscle fibers from four patients with mitochondrial myopathy. PCR-based methods were used to quantitate both relative and absolute amounts of Δ- and wt-mtDNAs in microdissected fiber segments. Although Δ-mtDNAs were present in normal fibers (31% ± 26), their percentages were much higher in affected fibers (95% ± 2). Absolute levels of Δ-mtDNA were also increased in affected fibers, whereas levels of wt-mtDNA were significantly reduced in these fibers. These results indicate that a threshold ratio of Δ-/wt-mtDNA must be achieved before an impairment of respiration is observed in muscle. Moreover, the marked reduction in wt-mtDNA observed in affected fibers suggests that absolute amounts of mtDNA may play a role in the pathogenesis of mitochondrial myopathies.
| Original language | English |
|---|---|
| Pages (from-to) | 13-19 |
| Number of pages | 7 |
| Journal | Human Molecular Genetics |
| Volume | 3 |
| Issue number | 1 |
| State | Published - Jan 1 1994 |
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ASJC Scopus subject areas
- Genetics
- Statistics, Probability and Uncertainty
- Applied Mathematics
- Public Health, Environmental and Occupational Health
- Molecular Biology
- Genetics(clinical)
Cite this
Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy. / Sciacco, Monica; Bonilla, Eduardo; Schon, Eric A.; DiMauro, Salvatore; Moraes, Carlos T.
In: Human Molecular Genetics, Vol. 3, No. 1, 01.01.1994, p. 13-19.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy
AU - Sciacco, Monica
AU - Bonilla, Eduardo
AU - Schon, Eric A.
AU - DiMauro, Salvatore
AU - Moraes, Carlos T
PY - 1994/1/1
Y1 - 1994/1/1
N2 - We studied the cellular distribution of both deleted (Δ) and wild-type (wt) mitochondrial DNAs (mtDNAs) in 'normal' and respiration-deficient muscle fibers from four patients with mitochondrial myopathy. PCR-based methods were used to quantitate both relative and absolute amounts of Δ- and wt-mtDNAs in microdissected fiber segments. Although Δ-mtDNAs were present in normal fibers (31% ± 26), their percentages were much higher in affected fibers (95% ± 2). Absolute levels of Δ-mtDNA were also increased in affected fibers, whereas levels of wt-mtDNA were significantly reduced in these fibers. These results indicate that a threshold ratio of Δ-/wt-mtDNA must be achieved before an impairment of respiration is observed in muscle. Moreover, the marked reduction in wt-mtDNA observed in affected fibers suggests that absolute amounts of mtDNA may play a role in the pathogenesis of mitochondrial myopathies.
AB - We studied the cellular distribution of both deleted (Δ) and wild-type (wt) mitochondrial DNAs (mtDNAs) in 'normal' and respiration-deficient muscle fibers from four patients with mitochondrial myopathy. PCR-based methods were used to quantitate both relative and absolute amounts of Δ- and wt-mtDNAs in microdissected fiber segments. Although Δ-mtDNAs were present in normal fibers (31% ± 26), their percentages were much higher in affected fibers (95% ± 2). Absolute levels of Δ-mtDNA were also increased in affected fibers, whereas levels of wt-mtDNA were significantly reduced in these fibers. These results indicate that a threshold ratio of Δ-/wt-mtDNA must be achieved before an impairment of respiration is observed in muscle. Moreover, the marked reduction in wt-mtDNA observed in affected fibers suggests that absolute amounts of mtDNA may play a role in the pathogenesis of mitochondrial myopathies.
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UR - http://www.scopus.com/inward/citedby.url?scp=0028140454&partnerID=8YFLogxK
M3 - Article
C2 - 8162014
AN - SCOPUS:0028140454
VL - 3
SP - 13
EP - 19
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 1
ER -