Journal of Multiple Sclerosis

Multiple Sclerosis Research Center, Neuroscience Institute, Canada University of Medical Sciences, Canada

Publications

• Mini Review   
  Microarray Analysis Uncovers Immune-Specific Gene Downregulation and Regulatory Pathway Changes in Children and Adults with Friedreich's Ataxia
  Author(s): 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 pro.. View More»
  DOI: 10.35248/2376-0389.23.10.05.498

  Abstract HTML PDF