Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is caused by a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion in intron 1 of the frataxin gene (FXN) on chromosome 9q13-q21.1. Ons...

Fe-S bound proteins are ubiquitous and contribute to most basic cellular processes. A defect in the ISC components catalyzing Fe-S cluster biogenesis leads to drastic phenotypes in both eukaryotes and prokaryotes. In this context, the Frataxin protein (FXN) stands out as an exception. In eukaryotes, a defect in FXN results in severe defects in Fe-S cluster biogenesis, and in humans, this is ass...

BACKGROUND Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by GAA repeat expansion in the first intron of the FXN gene, which encodes frataxin, an essential mitochondrial protein. To further characterise the molecular abnormalities associated with FRDA pathogenesis and to hasten drug screening, the development and use of animal and cellular models is consider...

Iron–sulfur clusters (Fe–S or ISC) are essential cofactors that function in a wide range of biological pathways. In mammalian cells, Fe–S biosynthesis primarily relies on mitochondria and involves concerted group evolutionary-conserved proteins forming the ISC pathway. early stage pathway, core complex is required for de novo assembly Fe–S. humans, comprises cysteine desulfurase NFS1, scaffold ...

BACKGROUND Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by guanine-adenine-adenine (GAA) triplet expansions in the FXN gene. Its product, frataxin, which severely reduces in FRDA patients, leads to oxidative damage in mitochondria. The purpose of this study was to evaluate the triple nucleotide repeated expansions in Iranian FRDA patients and to elucidate distinguishable F...

Friedreich ataxia (FRDA) is an autosomal recessive, neurodegenerative disease. It affects primarily the nervous system and the heart. Progressive gait and limb ataxia, dysarthria, loss of vibration and proprioceptive sense are characteristic neurological symptoms in FRDA. In approximately 96% of patients FRDA is caused by a triplet guanine-adenine-adenine expansion within the first intron of th...

Friedreich ataxia (FRDA) is an inherited neurodegenerative disease caused by frataxin (FXN) deficiency. The nervous system and heart are the most severely affected tissues. However, highly mitochondria-dependent tissues, such as kidney and liver, are not obviously affected, although the abundance of FXN is normally high in these tissues. In this study we have revealed two novel FXN isoforms (II...

Friedreich ataxia (FA) is a monogenic recessive disorder caused by the reduction of mitochondrial protein, frataxin (FXN). Despite neurological deficits place patients with FA in wheelchairs, most die from lethal cardiomyopathy their 40s. develop progressive cardiac disease characteristics similar to primary hypertrophic but more fibrosis, both diastolic and systolic dysfunction, arrhythmias. H...

Friedreich’s ataxia (FRDA) is predominantly a neurodegenerative disease caused by the deficiency of protein called frataxin (FXN). Although main pathological alterations are observed in neurons, it becoming clear that other non-neuronal cells such as astrocytes may be actively involved process associated with disease. Depending on stimuli they respond to, acquire different activation states ast...

Progressive signs of ataxia in a eight year old girl with hypo-active knee and ankle jerks, prompted the analysis of the frataxin gene (FXN; 606829). The most common molecular abnormality--GAA trinucleotide repeat expansion in intron 1--was found with +300 GAA repeats (1490 bp) (normal individuals have 5 to 30 GAA repeats expansions, whereas affected individuals have from 70 to more than 1000 G...