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FARAFARA Cure FA

 

Scientific News

FARA funds research progress

In this section, you will find the most recent FA research publications, many of which are funded by FARA, as well as information on upcoming conferences and symposiums. You can search for articles by date using the archive box in the right hand column. To locate FARA Funded or Supported Research, click the hyperlink in the right hand column. You may also search for specific content using key words or phrases in the search button at the top right of your screen. Please be sure to visit other key research sections of our website for information on FARA’s Grant Program and the Treatment Pipeline.

 


 

Mitochondrial dysfunction in the neuro-degenerative and cardio-degenerative disease, Friedreich's ataxia

Mitochondrial homeostasis is essential for maintaining healthy cellular function and survival. The detrimental involvement of mitochondrial dysfunction in neuro-degenerative diseases has recently been highlighted in human conditions, such as Parkinson's, Alzheimer's and Huntington's disease. Friedreich's ataxia (FA) is another neuro-degenerative, but also cardio-degenerative condition, where mitochondrial dysfunction plays a crucial role in disease progression. Deficient expression of the mitochondrial protein, frataxin, is the primary cause of FA, which leads to adverse alterations in whole cell and mitochondrial iron metabolism. Dys-regulation of iron metabolism in these compartments, results in the accumulation of inorganic iron deposits in the mitochondrial matrix that is thought to potentiate oxidative damage observed in FA. Therefore, the maintenance of mitochondrial homeostasis is crucial in the progression of neuro-degenerative conditions, particularly in FA. In this review, vital mitochondrial homeostatic processes and their roles in FA pathogenesis will be discussed. These include mitochondrial iron processing, mitochondrial dynamics (fusion and fission processes), mitophagy, mitochondrial biogenesis, mitochondrial energy production and calcium metabolism.

Read more HERE

Chondrial Announces FDA Orphan Drug Designation for CTI-1601, a Novel Investigational Technology for the Treatment of Friedreich's Ataxia

Chondrial Therapeutics, Inc., an emerging biotechnology company focused on the treatment of rare mitochondrial diseases, announced today that the US Food and Drug Administration (FDA) has granted orphan drug designation to its lead investigational drug candidate, CTI-1601, being developed for the treatment of Friedreich's Ataxia.

Orphan drug designation is granted by the FDA Office of Orphan Products Development to drugs being developed for safe and effective treatment of diseases that affect fewer than 200,000 people in the U.S. For a drug to qualify for orphan drug designation, FDA must determine there is a medically plausible basis for the use of the drug for the rare disease or condition.

Read more HERE

Pharmacological therapeutics in Friedreich Ataxia: The present state

Friedreich ataxia (FRDA) is a progressive, inherited, neurodegenerative disease for which there is currently no cure or approved treatment. FRDA is caused by deficits in the production and expression of frataxin, a protein found in the mitochondria that is most likely responsible for regulating iron-sulfur cluster enzymes within the cell. A decrease in frataxin causes dysfunction of adenosine triphosphate synthesis, accumulation of mitochondrial iron, and other events leading to downstream cellular dysfunction. Areas covered: Therapeutic development for FRDA currently focuses on improving mitochondrial function and finding ways to increase frataxin expression. Additionally, the authors will review potential approaches aimed at iron modulation and genetic modulation. Finally, gene therapy is progressing rapidly and is being explored as a treatment for FRDA. Expert commentary: The collection of multiple therapeutic approaches provides many possible ways to treat FRDA. Although the mitochondrial approaches are not thought to be curative, as the primary frataxin deficit will remain, they may still produce improvements in quality of life and slowing of progression. Therapies aimed at frataxin restoration are more likely to truly modify the disease, with gene therapy as the best possibility to alter the course of the disease from both a cardiac and neurological perspective.

Read more HERE

Nicotinamide mononucleotide requires SIRT3 to improve cardiac function and bioenergetics in a Friedreich's ataxia cardiomyopathy model

Increasing NAD+ levels by supplementing with the precursor nicotinamide mononucleotide (NMN) improves cardiac function in multiple mouse models of disease. While NMN influences several aspects of mitochondrial metabolism, the molecular mechanisms by which increased NAD+ enhances cardiac function are poorly understood. A putative mechanism of NAD+ therapeutic action exists via activation of the mitochondrial NAD+-dependent protein deacetylase sirtuin 3 (SIRT3). This group assessed the therapeutic efficacy of NMN and the role of SIRT3 in the Friedreich's ataxia cardiomyopathy mouse model (FXN-KO). At baseline, the FXN-KO heart has mitochondrial protein hyperacetylation, reduced Sirt3 mRNA expression, and evidence of increased NAD+ salvage. Remarkably, NMN administered to FXN-KO mice restores cardiac function to near-normal levels. To determine whether SIRT3 is required for NMN therapeutic efficacy, we generated SIRT3-KO and SIRT3-KO/FXN-KO (double KO [dKO]) models. The improvement in cardiac function upon NMN treatment in the FXN-KO is lost in the dKO model, demonstrating that the effects of NMN are dependent upon cardiac SIRT3. Coupled with cardio-protection, SIRT3 mediates NMN-induced improvements in both cardiac and extracardiac metabolic function and energy metabolism. Taken together, these results serve as important preclinical data for NMN supplementation or SIRT3 activator therapy in Friedreich's ataxia patients.

Read more HERE

Call for Abstracts - 10th Annual Friedreich’s Ataxia Symposium

The Friedreich’s Ataxia Research Alliance (FARA) and the Children’s Hospital of Philadelphia (CHOP) would like to invite young investigators—graduate/medical students and post-doctoral fellows—to submit abstracts for the 10th Annual Friedreich’s Ataxia Symposium to be held on October 15-16, 2017 in King of Prussia, PA. This one-day symposium provides patients and families with up-to-date clinical information on therapeutic approaches and current research being conducted in the field of Friedreich’s ataxia. We begin with a reception on the evening of Sunday, October 15, and talks throughout the day on Monday, October 16, 2017. Posters will be up throughout the meeting with specific poster sessions during the reception on the 15th and breakfast and lunch on the 16th. We encourage you to share this information with young investigators in your lab who would benefit from gaining greater exposure to the FA community in addition to the experience of presenting their research data.

 

Please Click Here to read more about the 10th Annual Friedreich’s Ataxia Symposium, and abstract submission (PDF).

 

Click Here to download the abtract submission form (Word Doc).

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