Journal of Multiple Sclerosis

Microarray Analysis Uncovers Immune-Specific Gene Downregulation and Regulatory Pathway Changes in Children and Adults with Friedreich's Ataxia

Jake Sambers* and Rosa Diaz

There is no cure for the inherited condition known as Friedreich's Ataxia (FRDA). In order to develop FRDA, new biomarkers and crucial mechanisms must be identified as soon as feasible. A hereditary disorder of the spinal cord and cerebellum known as Friedreich's ataxia (FRDA) is mostly brought on by homozygous repeated amplification of the Guanine-Adenine-Adenine (GAA) triplet in the frataxin gene. Repeat amplification and mutation lead to a decrease in the expression level of functional Frataxin. Frataxin deficiency can lead to ferroptosis and oxidative stress, which in turn can lead to mitochondrial dysregulation. Children's initial symptoms frequently include ataxia that worsens and loss of balance. As the condition worsens, patients may have dysarthria and loss of tendon reflex; in many cases, these symptoms are followed by myocardial infarction and diabetes. FRDA progression cannot currently be stopped with an effective therapy; instead, most therapies are symptomatic. Therefore, a deeper comprehension of the underlying pathophysiology and the creation of more potent therapeutic strategies are essential. Recently, some serum biomarkers have been found to be potential crucial indicators in the aetiology of FRDA. For instance, Friedreich's ataxia patients have significantly higher levels of neurofilament light and heavy chains, and these levels decrease with age. Additionally, it has been demonstrated that serum hsTnT, NTproBNP, and miRNAs are related to the progression of cardiomyopathy in adult FRDA patients. However, the clinical utility of these biomarkers has not yet been established in prospective cohorts, and it is unclear how these indicators interact clinically. Furthermore, the clinical diagnosis of FRDA has not yet used these biomarkers. Therefore, finding more biomarkers may offer vital details on the diagnosis and therapy of FRDA. In a variety of illnesses, such as cancer, heart disease, and neurodegenerative disease, key biomarkers closely linked to disease prognosis are currently being discovered via bioinformatics analysis. Additionally, the knowledge of the unique mechanism of transcriptional regulatory networks in disease progression will be aided by competitive endogenous RNA (ceRNA) networks.