Researchers at the University of Wisconsin-Madison have developed a synthetic molecule that may help overcome the effects of the genetic defect that causes Friedreich’s ataxia. According to the study, “Synthetic transcription elongation factors license transcription across repressive chromatin,” the Syn-TEF1 molecule can bind to the mutated…
News
Australian researchers say a short-term rehabilitation program improved the health and well-being of a small group of patients with Friedreich’s ataxia (FA). The study, “Can rehabilitation improve the health and well-being in Friedreich’s ataxia: a randomized controlled trial?” appeared in the journal Clinical Rehabilitation. Researchers evaluated the effects…
Lack of frataxin protein in the heart muscles of mice with Friedreich’s ataxia leads to low levels of another protein that protects against heart damage, a study reports. The heart-protecting protein, Nrf2, regulates oxidative stress, an imbalance between the body’s production of potentially harmful free radicals and the antioxidant system’s ability to…
Sensory neurons derived from patients with Friedreich’s ataxia may be a valuable model for studying disease processes and test new treatments, researchers from the Université Libre de Bruxelles in Belgium argued. The neurons, grown from patients’ stem cells, capture many of the features researchers believe are key disease mechanisms…
The National Organization for Rare Disorders (NORD) says it’s “disappointed and dismayed” after the House of Representatives voted 227-205 last week to repeal the Orphan Drug Tax Credit as part of a U.S. tax reform package. A similar package before the Senate Finance Committee does not repeal the credit…
News
Activating Nrf2 Protein Might Prevent Nerve Cell Degeneration in Friedreich’s Ataxia, Study Finds
Activating a protein known as Nrf2 might prevent the nerve cell disintegration that is a hallmark of Friedreich’s ataxia, a study indicates. The research, published in the International Journal of Molecular Sciences, involved cells grown in a lab. Its title is “Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic…
Researchers have found that asymptomatic dysfunction of mitochondrial activity in the part of the brain that regulates muscular activity, the cerebellum, may be a first step in the development of Friedreich’s ataxia (FA). A study, “Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the…
Biomarin has selected a potential therapy candidate to test in human clinical trials in Friedreich’s ataxia. The compound, BMN 290, turns the frataxin gene back on by altering the three-dimensional structure of the genetic sequence. Tests in animal models of Friedreich’s ataxia show that BMN 290 increases frataxin production…
Transplanting hematopoietic stem and progenitor cells (HSPCs) restored muscle strength and motility function in a mouse model of Friedreich’s ataxia, according to a report published in Science Translational Medicine. Researchers at University of California San Diego School of Medicine showed that HSPCs could restore the activity of mitochondria in…
The European Medicines Agency (EMA) has granted orphan medicinal product designation to Agilis Biotherapeutics’ gene therapy candidate AGIL-FA, being developed for the treatment of Friedreich’s ataxia (FA). FA is a neurodegenerative disease caused by a defect in the frataxin (FXN) gene that reduces production of the…
Recent Posts
- This FA Awareness Month, I’m focusing on moments of intentional joy
- A powerful performance from the past reminds me that ‘It’s OK’
- Use of skin, cheek cells may help monitor nomlabofusp effects in FA
- I found out who my real friends were after I was diagnosed with FA
- I’m living proactively with FA, but going with the flow, too