Mammalian mtDNA encodes for 13 core proteins of oxidative phosphorylation. Mitochondrial DNA mutations and deletions cause severe myopathies and neuromuscular diseases. Thus, the integrity of mtDNA is pivotal for cell survival and health of the organism. We here discuss the possible impact of mitochondrial fusion and fission on mtDNA maintenance as well as positive and negative selection proces...

Collagen VI myopathies (Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM), and myosclerosis myopathy) share a common pathogenesis, that is, mitochondrial dysfunction due to deregulation of the permeability transition pore (PTP). This effect was first identified in the Col6a1(-/-) mouse model and then in muscle cell cultures from UCMD and BM patients; the normalizing effect of ...

previously disappeared from her extremities (thought to be secondary to either the autoimmune disease or medication side effect) has regrown. Prior to oxygen therapy, her soft tissues in the extremities were painful with a boggy firmness, a fibromyalgia-like finding also thought to be part of the autoimmune syndrome. This symptom has gradually, but significantly, improved through a combination ...

Deficiencies of the mitochondrial respiratory chain or the phosphorylation system are becoming increasingly recognized causes of myopathy and multisystem disease in man. In biochemical terms, the ones most clearly defined have been associated with impaired activities of NADH : ubiquinone reductase (Morgan-Hughes el al., 1979, 1984; Land et al., 1981; Moreadith etal., 1984), ubiquino1:cytochrome...

This book, Volume 306 in the series Progress in Clinical and Biological Research, is the record of the Fifth Inernational Clinical Genetics Seminar held in Crete, October 1988. Over 60 contributors from all over the world participated in this conference, and their individual papers comprise the volume. Six sections include the following topics: muscular dystrophies, spinal muscular atrophies, m...