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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.

 


 

E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia

Friedreich ataxia (FRDA) is a severe genetic neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin. To date, there is no therapy to treat this condition. The amount of residual frataxin critically affects the severity of the disease; thus, attempts to restore physiological frataxin levels are considered therapeutically relevant. Frataxin levels are controlled by the ubiquitin-proteasome system; therefore, inhibition of the frataxin E3 ligase may represent a strategy to achieve an increase in frataxin levels. Here, we report the identification of the RING E3 ligase RNF126 as the enzyme that specifically mediates frataxin ubiquitination and targets it for degradation. RNF126 interacts with frataxin and promotes its ubiquitination in a catalytic activity-dependent manner, both in vivo and in vitro. Most importantly, RNF126 depletion results in frataxin accumulation in cells derived from FRDA patients, highlighting the relevance of RNF126 as a new therapeutic target for Friedreich ataxia.

Read more HERE

Chondrial Therapeutics Secures Up to $22.6 Million in Series A Financing and Licenses Novel Technology for the Treatment of Friedreich’s Ataxia

Discovered by Dr. Payne while at Wake Forest Baptist Medical Center, CTI-1601 (TAT-frataxin) utilizes a carrier protein to deliver frataxin, the deficient protein in Friedreich’s Ataxia, to the mitochondria where researchers believe it is processed to mature frataxin and becomes active in mitochondrial metabolism.

Read the full Press Release HERE

Cardiac transplantation in Friedreich Ataxia: Extended follow-up

Friedreich Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder most commonly caused by guanine-adenine-adenine (GAA) trinucleotide repeat expansions in both alleles of the FXN gene. Although progressive ataxia remains the hallmark clinical feature, patients with FRDA are at high risk of developing cardiomyopathy, often resulting in premature death. There is no specific treatment for FRDA-associated cardiomyopathy; even in advanced cardiac failure cardiac transplantation is not commonly pursued. This case series describes extended follow-up of three FRDA cases with end-stage heart failure but mild neurologic disease who underwent successful heart transplantation. We also review and examine the ethical considerations for heart transplantation in the setting of neurodegenerative disease.

Read more HERE

Newly Funded FARA Grants

Drug Discovery/Improving Clinical Outcomes:

Title: Endurance and resistance exercise mitigate Friedreich’s ataxia
PI: Zhen Yan, University of Virginia
*Funded in part by the Phillip Bennett Memorial Fund

This research grant builds on prior funded work evaluating the impact of exercise in an FA mouse model.  The overall objectives of this proposal are to determine if resistance exercise and endurance exercise are equally effective in preventing symptoms of FRDA in mice and to elucidate how endurance exercises exert the positive impact. The proposed studies will provide new insights into interventions to the etiology of FRDA and pave the way for the development of innovative exercise-based interventions for management and therapy. 

Read more: Newly Funded FARA Grants

Friedreich Ataxia: Hypoplasia of Spinal Cord and Dorsal Root Ganglia

Early descriptions of Friedreich's Ataxia described depletion of myelinated fibers in the dorsal columns, dorsal spinocerebellar and lateral corticospinal tracts, and neuronal loss in the dorsal nuclei of Clarke columns. Lack of large neurons in dorsal root ganglia (DRG), thinning of dorsal roots (DR), and poor myelination in sensory nerves are now also recognized as key components of FA. Here, we measured cross-sectional areas of the mid-thoracic spinal cord (SC) and neuronal sizes in lumbosacral DRG of 24 genetically confirmed FA cases. Mean thoracic SC areas in FA (24.17 mm2) were significantly smaller than those in 12 normal controls (37.5 mm2); DRG neuron perikarya in FA (1362 µm2) were also significantly smaller than normal (2004 µm2). DRG neuron sizes were not correlated with SC areas. The FA patients included a wide range of disease onset and duration suggesting that the SC undergoes growth arrest early and remains abnormally small throughout life. Immunohistochemistry for phosphorylated neurofilament protein, peripheral myelin protein 22, and myelin proteolipid protein confirmed chaotic transition of axons into the SC in DR entry zones. We conclude that smaller SC areas and lack of large DRG neurons indicate hypoplasia rather than atrophy in FA.

Read more HERE

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