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FARA Funded Research

Your generous support has funded all the research listed below.

For more information on FARA-funded research & scientists, please visit FARA Supported Research, Active Clinical Trials and the Featured Scientist.

Orphan Drugs In Development For The Treatment Of Friedreich's Ataxia: Focus On Omaveloxolone

Nrf2 activators such as omaveloxolone (Omav) modulate antioxidative mechanisms, and thus may be viable therapeutic agents in Friedreich's Ataxia (FRDA). This paper reviews the MOXIe trial (NCT02255435, Reata Pharmaceuticals Inc) and the use of other Nrf2 activators as a viable option in the treatment of FRDA.

Read the entire article HERE

Temporal but not spatial dysmetria relates to disease severity in FA

Features of Friedreich's Ataxia (FA) include proprioceptive and cerebellar deficits leading to impaired muscle coordination and, consequently, dysmetria in force and time of movement. The aim of this study is to characterize dysmetria and its association to functional capacity. Also, the authors examine the neural mechanisms of dysmetria by quantifying the EMG burst area, duration, and time-to-peak of the agonist muscle. 27 individuals with FA and 13 healthy controls (HC) performed the modified Functional Ataxia Rating Scale (mFARS), and goal-directed movements with the ankle. Dysmetria was quantified as position and time error during dorsiflexion. FA individuals exhibited greater time but not position error than HC. Moreover, time error correlated with disease severity and was related to increased agonist EMG burst. Temporal dysmetria is associated to functional capacity, likely due to altered activation of the agonist muscle.

Read the entire article HERE

The Structure of the Human ACP-ISD11 Heterodimer

In recent years the mammalian mitochondrial protein complex for iron-sulfur cluster assembly has been the focus of major studies. This is partly because of its high relevance in cell metabolism, but also because mutations of the involved proteins are the cause of several human diseases. Cysteine desulfurase NFS1 is the key enzyme of the complex. At present, it is well known that the active form of NFS1 is stabilized by the small protein ISD11. In this work, the structure of the human mitochondrial ACP-ISD11 heterodimer was solved at 2.0 Å resolution. ACP-ISD11 forms a cooperative unit stabilized by several ionic interactions, hydrogen bonds and also by apolar interactions. The 4'-phosphopantetheine-acyl chain, which is covalently bound to ACP, interacts with several residues of ISD11, modulating together with ACP the foldability of ISD11. Recombinant human ACP-ISD11 was able to interact with the NFS1 desulfurase, thus yielding an active enzyme, and the core complex NFS1/ACP-ISD11 was activated by frataxin and ISCU proteins. Internal motions of ACP-ISD11 were studied by molecular dynamic simulations, showing the persistence of the interactions between both protein chains. The conformation of the dimer is similar to the one found in the context of the supercomplex core (NFS1/ACP-ISD11)2, which contains the E. coli ACP instead of the human variant. This fact suggests a sequential mechanism for supercomplex consolidation, in which the ACP-ISD11 complex may fold independently and after that, the NFS1 dimer is stabilized.

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Primary Cultures of Pure Embryonic Dorsal Root Ganglia Sensory Neurons as a New Cellular Model for Friedreich's Ataxia

Primary neuronal cultures represent an essential tool in the study of events related to peripheral neuropathies as they allow to isolate the affected cell types, often originating in complex tissues in which they account for only a few percentage of cells. Neuronal cultures also provide a powerful system to identifying or testing compounds with potential therapeutic effect in the treatment of those diseases. Proprioceptive neurons of the dorsal root ganglia (DRG) are the primary affected cells in Friedreich's Ataxia. This paper describes a model of primary cultures of DRG sensory neurons in which there is an induced the loss of the frataxin protein. THis model can alleviate the issues related to the complexity of DRG tissues and low amount of sensory neuron material in adult mouse. The authors provide a protocol of detailed and optimized methods to obtain high yield of healthy mouse DRG sensory neuron in culture.

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Changes detected in swallowing function in Friedreich ataxia over 12 months

Dysphagia (swallowing impairment) is present in 98% of individuals with Friedreich ataxia (FRDA) and is characterized by lingual and pharyngeal dysfunction (manifesting in impaired bolus preparation and transfer, and post-swallow residue in the mouth and pharynx), delayed swallow initiation, and entry of material into the airway (penetration/aspiration). Dysphagia severity correlates with disease severity and duration however no longitudinal studies describe changes in function in FRDA. The aim of this study was to investigate the progression of dysphagia in FRDA over one year. Fifty-nine individuals with FRDA and confirmed dysphagia were recruited and 23 of them underwent a second assessment 12 months later. Assessments of swallowing related quality of life, oral motor function (Frenchay Dysarthria Assessment 2nd Ed [FDA-2]) and functional swallowing via videofluoroscopy were conducted.

Read the entire article HERE

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