Mitochondrial DNA Mutations Induce Mitochondrial Dysfunction, Apoptosis and Sarcopenia in Skeletal Muscle of Mitochondrial DNA Mutator Mice

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Mitochondrial DNA Mutations Induce Mitochondrial Dysfunction, Apoptosis and Sarcopenia in Skeletal Muscle of Mitochondrial DNA Mutator Mice

BACKGROUND Aging results in a progressive loss of skeletal muscle, a condition known as sarcopenia. Mitochondrial DNA (mtDNA) mutations accumulate with aging in skeletal muscle and correlate with muscle loss, although no causal relationship has been established. METHODOLOGY/PRINCIPAL FINDINGS We investigated the relationship between mtDNA mutations and sarcopenia at the gene expression and bi...

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Mitochondrial DNA Mutations, Pathogenicity and Inheritance

Mitochondria contain their own DNA (mtDNA), which codes for 13 proteins (all subunits of the respiratory chain complexes), 22 tRNAs and 2 rRNAs. Several mtDNA point mutations as well as deletions have been shown to be causative in well-defined mitochondrial disorders. A mixture of mutated and wild type mtDNA (heteroplasmy) is found in most of these disorders. Inheritance of mtDNA is maternal, a...

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A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome.

M itochondrial myopathies are often associated with point mutations in mitochondrial DNA (mtDNA), and are usually maternally inherited. However, they may also present as an isolated myopathy, often with ptosis and ophthalmoparesis, or with isolated exercise intolerance. In eight patients with exercise intolerance described by us in 1999, there was no evidence of maternal inheritance, muscle his...

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Mitochondrial DNA, mitochondrial dysfunction, and cardiac manifestations.

Mitochondria, are the powerhouses of cells, have their own DNA (mtDNA), regulate the transport of metabolites and ions, and impact cell physiology, survival, and death. Mitochondrial dysfunction, including impaired oxidative phosphorylation, preferentially affects heart function due to an imbalance of energy supply and demand. Recently, mitochondrial mutations and associated mitochondrial dysfu...

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Can mitochondrial DNA mutations cause sperm dysfunction?

Very low levels of somatic mitochondrial (mt)DNA deletions have been identified in the semen of infertile men. It has been suggested that these mutations cause infertility through an effect on sperm motility, but there has been no direct evidence to show that mutant mtDNA can affect sperm function. We have carried out semen analysis on a male harbouring the A3243G mtDNA mutation and show that h...

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ژورنال

عنوان ژورنال: PLoS ONE

سال: 2010

ISSN: 1932-6203

DOI: 10.1371/journal.pone.0011468