Since the discovery of the causative mutation in Friedreich ataxia, there has been an explosion of research at the basic and clinical levels. The cause of the disease is the relative deficiency of the small mitochondrial protein frataxin, whose absence lead to many downstream events generally associated with mitochondrial dysfunction. Still, finding successful treatments has been elusive, with no drug agent yet approved for the disease. In many cases, further understanding of the details of the mechanisms of disease in FRDA would lead to new approaches for its treatment. Such understanding can come from discoveries at the level of the cause of frataxin deficiency as well as findings in the downstream frataxin dependents events.
This volume will showcase such findings and their role in therapeutic advances. Through a collection of review articles and targeted pieces of primary data, the work will discuss in detail the molecular events that lead to frataxin deficiency, the diverse pathways of homeostatic disruption that occur with loss of frataxin, and the details of treatment ( at a basic science level) that have prevented rapid development of successful therapeutic agents. Limitations of present understanding and potential strategies for solving such issues will be important aspects of each article. This will allow the readers in the field to direct future work toward ameliorating the issues of therapeutic development.
In this Research Topic we welcome articles that cover the following topics:
• Role of point mutations in FRDA.
• Role of frataxin in Fe-S cluster biogenesis
• gene therapy in FRDA
• proprioceptive neurons in FRDA
• Neuroanatomy of FRD
• frataxin biophysics
• epigenetic heterogeneity in FA
• FXN gene reactivation (all modalities – including oligos and syn-TF1)
• Extra-mitochondrial frataxin
• adipose biology in FA
• Diabetes in FA (basic mechanisms)
Since the discovery of the causative mutation in Friedreich ataxia, there has been an explosion of research at the basic and clinical levels. The cause of the disease is the relative deficiency of the small mitochondrial protein frataxin, whose absence lead to many downstream events generally associated with mitochondrial dysfunction. Still, finding successful treatments has been elusive, with no drug agent yet approved for the disease. In many cases, further understanding of the details of the mechanisms of disease in FRDA would lead to new approaches for its treatment. Such understanding can come from discoveries at the level of the cause of frataxin deficiency as well as findings in the downstream frataxin dependents events.
This volume will showcase such findings and their role in therapeutic advances. Through a collection of review articles and targeted pieces of primary data, the work will discuss in detail the molecular events that lead to frataxin deficiency, the diverse pathways of homeostatic disruption that occur with loss of frataxin, and the details of treatment ( at a basic science level) that have prevented rapid development of successful therapeutic agents. Limitations of present understanding and potential strategies for solving such issues will be important aspects of each article. This will allow the readers in the field to direct future work toward ameliorating the issues of therapeutic development.
In this Research Topic we welcome articles that cover the following topics:
• Role of point mutations in FRDA.
• Role of frataxin in Fe-S cluster biogenesis
• gene therapy in FRDA
• proprioceptive neurons in FRDA
• Neuroanatomy of FRD
• frataxin biophysics
• epigenetic heterogeneity in FA
• FXN gene reactivation (all modalities – including oligos and syn-TF1)
• Extra-mitochondrial frataxin
• adipose biology in FA
• Diabetes in FA (basic mechanisms)
