𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies

✍ Scribed by Massimiliano Filosto; Michelangelo Mancuso; Cristofol Vives-Bauza; Maya R. Vilà; Sara Shanske; Michio Hirano; Antoni L. Andreu; Salvatore DiMauro

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
49 KB
Volume
54
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.

✦ Synopsis

In 2002, paternal inheritance of muscle mitochondrial DNA (mtDNA) was reported in a patient with exercise intolerance and a mitochondrial DNA (mtDNA) mutation restricted to skeletal muscle. To evaluate whether paternal inheritance is a common phenomenon, we studied 10 sporadic patients with skeletal muscle-restricted mtDNA mutations: five harbored mtDNA point mutations in protein-coding genes and five had single mtDNA deletions. We performed haplotype analysis and direct sequencing of the hypervariable regions 1 and 2 of the D-loop in muscle and blood from the patients and, when available, in blood from their parents. We did not observe paternal inheritance in any of our patients.

📜 SIMILAR VOLUMES

Tissue distribution and transmission of
Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies
✍ M. Zeviani; C. Gallera; M. Pannacci; G. Uziel; A. Prelle; S. Servidei; Dr S. DiD 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 468 KB 👁 2 views

## Abstract By using a combination of Southern blot hybridization analysis, polymerase–chain reaction amplification, and direct nucleotide sequencing, we studied deletions of mitochondrial DNA (mtDNA) in several nonfamilial patients with progressive external ophthalmoplegia and Kearns‐Sayre syndrom

Differential occurrence of mutations in
Differential occurrence of mutations in mitochondrial DNA of human skeletal muscle during aging
✍ Chunfang Zhang; Vincent W. S. Liu; Corrado L. Addessi; David A. Sheffield; Antho 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 305 KB 👁 2 views

## Communicated by Henrik Dahl Seven mtDNA mutations (five base substitutions and two deletions) were studied in skeletal muscle samples of 18 human subjects aged 1 hr to 90 years. Quantitative PCR procedures were applied to determine the incidence (frequency of occurrence) and abundance (percentag

Study of mitochondrial DNA depletion in
Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction
✍ Monica Sciacco; Pasquale Gasparo-Rippa; Tuan H. Vu; Kurenai Tanji; Sara Shanske; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 432 KB 👁 2 views

We studied muscle biopsies from 3 children with a mitochondrial myopathy characterized histochemically by the presence of ragged-red fibers (RRF) and various numbers of cytochrome c oxidase (COX)-negative fibers. We quantitated the absolute amounts of total mitochondrial DNA (mtDNA) in isolated norm

Running on empty: Does mitochondrial DNA
Running on empty: Does mitochondrial DNA mutation limit replicative lifespan in yeast? : Mutations that increase the division rate of cells lacking mitochondrial DNA also extend replicative lifespan in Saccharomyces cerevisiae
✍ Cory D. Dunn 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 139 KB 👁 1 views

## Abstract Mitochondrial DNA (mtDNA) mutations escalate with increasing age in higher organisms. However, it has so far been difficult to experimentally determine whether mtDNA mutation merely correlates with age or directly limits lifespan. A recent study shows that budding yeast can also lose fu