About this Research Topic
Friedreich’s ataxia (FRDA) is an autosomal recessive neurodegenerative disease characterized by progressive gait and limb ataxia, a hypertrophic cardiomyopathy, dysarthria, scoliosis, and in some individual’s diabetes. FRDA is caused by a deficit in the production and thus function of frataxin protein. The age of the onset of the disease severity correlates with levels of frataxin in peripheral tissue. The loss of the dentate nucleus of the cerebellum, corticospinal pathways, and retinal ganglion cells follow the degeneration of dorsal root ganglion, which initiates the neurologic phenotype. The incidence of FRDA worldwide is 1 in 30,000 to 50,000 people.
FRDA's genetic etiology is well known, but the disease's mechanism is still poorly understood, particularly the pathogenesis of the affected tissues (brain, heart, and to a lesser extent skeletal muscle), of which the failure of heart function is the main cause of mortality. Transcriptome and proteome studies have identified changes in many genes or molecular pathways in the brain and heart of FRDA mice models, but their precise roles in the pathophysiology of these tissues as well as how frataxin deficiency results in these changes are unknown. Methods seeking to boost frataxin levels by genetic or posttranslational modification have not yet advanced to the point of clinical trials. Additionally, due to the participation of non-homogeneous populations, possible therapeutic drugs assessed in clinical trials have not produced reliable and consistent findings. To facilitate FRDA medication discovery and improve patient functionality, it is necessary to enhance the field in both mechanistic studies and translational medicine.
In this research topic we welcome papers that address a variety of FRDA-related topics, such as (but not limited to):
- Fundamental and translational research in model organisms, aimed at understanding the mechanistic examination of the pathophysiology of affected tissues in FRDA models and frataxin modulation through genetic, epigenetic or posttranslational components, by targeted pharmacological approaches.
- Clinical trials and disease management: investigation into the development of therapies that diminish FRDA traits in patients, animals, or cells; clinical trials assessing the impact of a prospective therapy, targeting on patient quality of life in homogenous populations.
- Creating aids or treatments to better address the symptoms of patients that could change the course of the disease, from both cardiac and neurological perspectives.
FRDA's genetic etiology is well known, but the disease's mechanism is still poorly understood, particularly the pathogenesis of the affected tissues (brain, heart, and to a lesser extent skeletal muscle), of which the failure of heart function is the main cause of mortality. Transcriptome and proteome studies have identified changes in many genes or molecular pathways in the brain and heart of FRDA mice models, but their precise roles in the pathophysiology of these tissues as well as how frataxin deficiency results in these changes are unknown. Methods seeking to boost frataxin levels by genetic or posttranslational modification have not yet advanced to the point of clinical trials. Additionally, due to the participation of non-homogeneous populations, possible therapeutic drugs assessed in clinical trials have not produced reliable and consistent findings. To facilitate FRDA medication discovery and improve patient functionality, it is necessary to enhance the field in both mechanistic studies and translational medicine.
In this research topic we welcome papers that address a variety of FRDA-related topics, such as (but not limited to):
- Fundamental and translational research in model organisms, aimed at understanding the mechanistic examination of the pathophysiology of affected tissues in FRDA models and frataxin modulation through genetic, epigenetic or posttranslational components, by targeted pharmacological approaches.
- Clinical trials and disease management: investigation into the development of therapies that diminish FRDA traits in patients, animals, or cells; clinical trials assessing the impact of a prospective therapy, targeting on patient quality of life in homogenous populations.
- Creating aids or treatments to better address the symptoms of patients that could change the course of the disease, from both cardiac and neurological perspectives.
Keywords: Friedreich’s ataxia, frataxin, disease mechanism, drug development, therapeutic approaches
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