TALEs targeting a promoter sequence and fused with a transcription activation domain (TAD) may be used to specifically induce the expression of a gene as a potential treatment for haploinsufficiency. This potential therapeutic approach was applied to increase the expression of frataxin in fibroblasts of Friedreich ataxia (FRDA) patients. FRDA fibroblast cells were nucleofected with a pCR3.1 exp...

objective mitochondrial dna (mtdna) is considered a candidate modifier factor for neuro-degenerative disorders. the most common type of ataxia is friedreich's ataxia (fa). the aim of this study was to investigate different parts of mtdna in 20 iranian fa patients and 80 age-matched controls by polymerase chain reaction (pcr) and automated dna sequencing methods to find any probable point mutati...

friedreich’s ataxia (frda) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a gaa-trinucleotide repeat expansion in the first intron of frataxin gene located on chromosome 9. the clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. ataxia with ...

Friedreich ataxia is an autosomal recessive neurodegenerative disease caused by defects in the FRDA gene, which encodes a mitochondrial protein called frataxin. Frataxin is evolutionarily conserved, with homologs identified in mammals, worms, yeast, and bacteria. The CyaY proteins of gamma-purple bacteria are believed to be closely related to the ancestor of frataxin. In this study, we have det...

Friedreich ataxia (FRDA) is a neurodegenerative disease caused by mutations in the frataxin (FXN) gene, resulting in reduced expression of the mitochondrial protein frataxin. While there currently is no cure for FRDA, our increasing understanding of the pathophysiology of disease has led to a surge in the development of potential treatments. As a result, there is a growing need for biological m...

Friedreich ataxia is usually caused by an expansion of a GAA trinucleotide repeat in intron 1 of the FRDA gene. Occasionally, a fully expanded allele has been found to arise from a premutation of 100 or less triplet repeats. We have examined the sperm DNA of a premutation carrier. This man's leucocyte DNA showed one normal allele and one allele of approximately 100 repeats. His sperm showed an ...

INTRODUCTION Friedreich's ataxia (FRDA) is the most common autosomal recessive inherited ataxia. It is characterized by onset before the age of 25 year, progressive limb and truncal ataxia, lower limb areflexia, extensor plantars, dysarthria and impaired posterior column sensations. Other important associated features are skeletal deformity, hypertrophic cardiomyopathy and diabetes mellitus. Mo...

BACKGROUND Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, characterized by progressive limb and gait ataxia due to proprioceptive loss, often complicated by cardiomyopathy, diabetes and skeletal deformities. Friedreich ataxia is the most common hereditary ataxia, with a reported prevalence of 1:20 000 - 1:50 000 in Central Europe. Previous reports from south No...

Background: Defects in the protein frataxin give rise to Friedreich ataxia. Results: A new Friedreich ataxia model using fission yeast has been generated, and its phenotype and proteome characterized. Conclusion: Frataxin absence triggers a complete iron starvation program, sufficient to generate all the associated respiratory defects. Significance: Our new model system may contribute to deciph...