human mitochondrial dna (mtdna) is 16,569 base pairs (bp) in length, coding for 37 genes. during the course of evolution, nearly all the genes expressing ribosomal proteins and ribosomal rnas (rrna) genes have been transferred from the mitochondria to the nucleus. however, mitochondrial dna contains two ribosomal rnas genes (12s and 16s), which have not yet transferred to the nucleus. these two...

introduction: a number of maternally inherited mitochondrial diseases with distinct clinical phenotypes have been associated with point mutations in mtdna, all of which result in neurologic or neuromuscular disorders. several studies showed that mutations in the trna genes of mtdna could cause mitochondrial disease due to the decreased synthesis of mitochondrial dna coded proteins. materials an...

background: mitochondria are autonomous cellular organelles that oversee a variety of functions such as metabolism, energy production, calcium buffering, and cell fate determination. most recently, mitochondrial dysfunction caused by mitochondrial mutations played important roles in the pathogenesis of asthma. however, the frequency of mitochondrial trna mutations in asthma is largely unknown. ...

friedreichs ataxia (frda) is an autosomal recessive neurodegenerative disorder caused by decreased expression of the protein frataxin. frataxin deficiency leads to excessive free radical production and dysfunction of chain complexes. mitochondrial dna (mtdna) could be considered a candidate modifier factor for frda disease, since mitochondrial oxidative stress is thought to be involved in the p...

background: mitochondrial transfer rnas (trna) genes are essential components of protein biosynthesis. these genes are hotspots for mutations. these mutations are associated with a wide spectrum of human disease. many genetic factors are known in assessment of repeated pregnancy loss (rpl). objective: the aim of this study was analysis of trna thr and trna pro in women with rpl. materials and m...

The complete mitochondrial genome of Purpureocillium lavendulum was characterized in this study. This mitogenome is a closed circular molecule 23,567 bp length with GC content 28.46%, including 15 protein-coding genes, 25 transfer RNA 2 ribosomal genes. Phylogenetic analyses based on sequences at the 14 concatenated genes showed that P. closely related to Hirsutella minnesotensis.

Desmin (DES) maintains the overall structure of cardiomyocytes and cytoskeletal organization within striated muscle cells. Mitochondrial thioredoxin reductase 2 (TXNRD-2) is essential for mitochondrial oxygen radical scavenging. We describe a rare case dilated cardiomyopathy (DCM) in an 18-year-old female with heterozygous mutation involving both DES TXNRD-2 genes.