the spinocerebellar ataxias (sca) comprise a heterogeneous group of severe late-onset neurodegenerative diseases that are promoted by the expansion of a tandem-arrayed dna sequence that modifies the primary structure of the protein. method: genomic dna of 20 patients with scas was extracted from peripheral blood and screened for deletions in mitochondrial dna (mtdna). sequencing of trna(leu), t...

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...

The phylogenetic relationship of five sturgeon species in the South Caspian Sea was investigated using mtDNA molecule. Sequence analysis of mtDNA D-loop region of five sturgeon species [Great sturgeon (Huso huso), Russian sturgeon (Acipenser gueldenstaedtii), Persian sturgeon (Acipenser persicus), Ship sturgeon (Acipenser nudiventris), Stellate sturgeon (Acipenser stellatus)] and DNA sequencing...

The phylogenetic relationship of five sturgeon species in the South Caspian Sea was investigated using mtDNA molecule. Sequence analysis of mtDNA D-loop region of five sturgeon species [Great sturgeon (Huso huso), Russian sturgeon (Acipenser gueldenstaedtii), Persian sturgeon (Acipenser persicus), Ship sturgeon (Acipenser nudiventris), Stellate sturgeon (Acipenser stellatus)] and DNA sequencing...

Although the regulation of mitochondrial DNA (mtDNA) copy number is performed by nuclear-coded factors, very little is known about the mechanisms controlling this process. We attempted to introduce nonhuman ape mtDNA into human cells harboring either no mtDNA or mutated mtDNAs (partial deletion and tRNA gene point mutation). Unexpectedly, only cells containing no mtDNA could be repopulated with...

results the relative expression of mtdna copy number was 3.7 fold higher in nafld patients than healthy controls (p < 0.0001). the results remained significant after adjustment for age, bmi, and gender (p = 0.02). in addition, the mtdna copy number was 4.3 (p < 0.0001) and 3.2-fold (p < 0.0001) higher in nonalcoholic fatty liver (nafl) and non-alcoholic steatohepatitis (nash) patients than heal...