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Analysis of mtDNA deletions in muscle by in situ hybridization

✍ Scribed by Tuan H. Vu; Kurenai Tanji; Francesco Pallotti; Valeria Golzi; Michio Hirano; Salvatore DiMauro; Eduardo Bonilla

Book ID
102652993
Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
897 KB
Volume
23
Category
Article
ISSN
0148-639X

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✦ Synopsis

We compared the distribution of deleted mitochondrial DNA (⌬-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 ⌬-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 ⌬-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 ⌬-mtDNA.

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