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Analysis of mtDNA deletions in muscle by in situ hybridization
Author(s) -
Vu Tuan H.,
Tanji Kurenai,
Pallotti Francesco,
Golzi Valeria,
Hirano Michio,
DiMauro Salvatore,
Bonilla Eduardo
Publication year - 2000
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(200001)23:1<80::aid-mus10>3.0.co;2-v
Subject(s) - mitochondrial dna , biology , in situ hybridization , cytochrome c oxidase , microbiology and biotechnology , mitochondrial myopathy , mitochondrion , chronic progressive external ophthalmoplegia , skeletal muscle , gene , genetics , messenger rna , anatomy
We compared the distribution of deleted mitochondrial DNA (Δ‐mtDNA) in skeletal muscle of a patient with autosomal recessive (AR) and another with autosomal dominant (AD) progressive external ophthalmoplegia (PEO) by in situ hybridization (ISH). The patients studied had similar numbers of fibers deficient in cytochrome c oxidase (COX) activity (13.6% and 12.8%) and fibers with mitochondrial proliferation (5.5% and 5.3%). ISH suggested that each COX‐deficient fiber contained a single species of Δ‐mtDNA. Most deletions ablated the region between the genes encoding adenosine triphosphate (ATP) synthase subunit 8 and cytochrome b . Fibers that appeared to be depleted of mtDNA were also present. We conclude that muscle from patients with autosomally inherited PEO contains not only Δ‐mtDNA but also focal depletion of mtDNA and that the distribution of these mtDNA defects appears to be similar. These changes most likely represent the common consequence of whatever genetic factors are responsible for the generation of Δ‐mtDNA. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 80–85, 2000