ataxia-telangiectasia (at) is a rare human neurodegenerative autosomal recessive multisystem disease characterized by a wide range of features including progressive cerebellar ataxia during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. mitochondrial dna (mtdna) has the only non-...

how to cite this article: heidari mm, khatami m, houshmand m, mahmoudi e, nafissi sh .increased prevalence 12308 a > g mutation in mitochondrialtrnaleu (cun) gene associated with earlier age of onset in friedreich ataxia. iranian journal of child neurology 2011;5(4):25-31. objective friedreich ataxia (frda) is an inherited recessive disorder. mitochondrial dna is a candidate modifying factor fo...

A role for mitochondrial dysfunction in neurodegenerative disease is gaining increasing support. Mitochondrial dysfunction may be linked to neurodegenerative diseases through a variety of different pathways, including free-radical generation, impaired calcium buffering and the mitochondrial permeability transition. This can lead to both apoptotic and necrotic cell death. Recent evidence has sho...

Emerging line research showed that silk nanoparticles (NPs) have toxicity on the fibroblastand Huvec cells without any toxicity recognized mechanisms. Recently, it suggested peripheralarterial disease confounds almost eight million Americans. Also, due to the main effect offibroblast in a production of extracellular matrix (ECM), adhesive molecules, glycoproteinsand various cytokines, it decide...

The reproductive success of men with mitochondrial disease is to date unreported. We compared the age- and era-adjusted reproductive success of 94 British male patients with mitochondrial disease to that of the UK general male population. The reproductive success of men with mitochondrial disease was 65% of that in the general population (95% confidence interval: 53%; 79%), and the effect magni...

Emerging line research showed that silk nanoparticles (NPs) have toxicity on the fibroblastand Huvec cells without any toxicity recognized mechanisms. Recently, it suggested peripheralarterial disease confounds almost eight million Americans. Also, due to the main effect offibroblast in a production of extracellular matrix (ECM), adhesive molecules, glycoproteinsand various cytokines, it decide...