Exercise intolerance and developmental delay associated with a novel mitochondrial XXXX mutation.

@entity1 @entity2125 @entity3276 @entity13329 @entity26 @entity73000 @entity880 @entity3457 @entity855 @entity2383
The aim of this study was to evaluate the contribution of mitochondrial DNA (mtDNA) mutations in oxidative phosphorylation (OXPHOS) deficiency. The complete mitochondrial genomes of 41 families with @entity2383 were screened for mutations. Mitochondrial functional analysis was then performed in primary and cybrid cells containing candidate mutations identified during the screening. A novel mitochondrial @entity2125 dehydrogenase 5 ( @entity13329 ) @entity73000 mutation was identified in a @entity1 with exercise intolerance and developmental delay. A biochemical analysis revealed @entity3457 ( @entity2125 : @entity3276 oxidoreductase) and IV (cytochrome c oxidase) of this @entity1 . Defects in complexes I and IV were confirmed in transmitochondrial cybrid cells containing the @entity73000 mutation, suggesting that this mutation impairs complex I assembly, resulting in reduced stability of complex IV. Further functional investigations revealed that mitochondria with the @entity73000 mutation exhibited lower OXPHOS coupling respiration and @entity855 ( @entity855 ) generation. In addition, the cytotoxic effects, determined as reactive @entity26 species (ROS) and @entity880 levels in the present study, increased in the cells carrying a higher @entity73000 mutant load. In conclusion, we identified @entity73000 as a @entity2383 -related mutation. Therefore, screening of @entity73000 is advised for the diagnosis of @entity1 with @entity2383 .
