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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.


An Instrumented Measurement Scheme for the Assessment of Upper Limb Function in Individuals with Friedreich Ataxia

Continuous and objective assessment is essential for accurate monitoring of the progression of neurodegenerative conditions such as Friedreich ataxia. However, current clinical assessments predominantly rely on the ability of the affected individual to complete specific clinical tests which may not capture the intricate kinematic details associated with ataxia. Moreover, such testing often consists of a level of subjectivity of the assessing clinician. In this paper, the authors propose an objective measuring instrument, in the form of a spoon, equipped with the Internet-of-Things (IoT) based system and relevant machine learning techniques to quantitatively assess impairment levels while engaged in routine daily activity. In a clinical study involving individuals diagnosed with Friedreich ataxia, movement patterns during a simulated eating task were captured and kinematic biomarkers were extracted that were consistent with the frequently-used clinical rating scales. Multivariate analysis of these biomarkers allowed to accurately classify individuals with Friedreich ataxia and control subjects to an accuracy of 91%. Furthermore, the kinematic information captured from the spoon can be used to introduce an alternative assessment scheme with a greater sensitivity to ataxic movements and with less inter-rater discrepancy.

Read the entire article HERE

Predictors of loss of ambulation in Friedreich's ataxia

Friedreich's ataxia (FRDA) is a characterized by progressive loss of coordination and balance leading to loss of ambulation (LoA) in nearly all affected individuals. While transition to becoming fully wheelchair bound is a critical milestone in the disease course, it presents a particularly challenging prediction, mostly due to variability in inter- and intra-subject severity and progression. For these reasons, LoA or potential surrogates have been impractical as outcomes in clinical trials. The authors studied progressive features leading to LoA in participants enrolled into the Friedreich's Ataxia Clinical Outcome Measures Study (FA-COMS), a natural history study with currently 4606 yearly follow up visits in 1021 patients. Loss of specific functions related to walking and standing of the neurological Friedreich Ataxia Rating Scale (FARS) exams were evaluated using time to event methods. To account for different severities, patients were stratified by age of disease onset. Early onset FRDA patients (

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Frataxin Structure and Function

Mammalian frataxin is a small mitochondrial protein involved in iron sulfur cluster assembly. Valuable knowledge has been gained on the structural dynamics of frataxin, metal-ion-protein interactions, as well as on the effect of mutations on protein conformation, stability and internal motions. Additionally, laborious studies concerning the enzymatic reactions involved have allowed for understanding the capability of frataxin to modulate Fe-S cluster assembly function. Remarkably, frataxin biological function depends on its interaction with some proteins to form a supercomplex, among them NFS1 desulfurase and ISCU, the scaffolding protein. By combining multiple experimental tools including high resolution techniques like NMR and X-ray, but also SAXS, crosslinking and mass-spectrometry, it was possible to build a reliable model of the structure of the desulfurase supercomplex NFS1/ACP-ISD11/ISCU/frataxin. This review explores these issues showing how the scientific view concerning frataxin structure-function relationships has evolved over the last years.

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Safety and Efficacy of Interferon γ in Friedreich's Ataxia

No Abstract available as of Jan 20, 2020.

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Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival

A microarray analysis performed on FRDA patient's lymphoblastoid cells stably reconstituted with frataxin, indicated HS-1-associated protein X-1 (HAX-1) as the most significantly upregulated transcript (FC=+2, P<0.0006). quantitative Reverse Transcription-Polymerase Chain Reaction (qRT-PCR) and western blot analysis performed on (I) HEK293 stably transfected with empty vector compared to wild-type frataxin and (II) lymphoblasts from FRDA patients show that low frataxin mRNA and protein expression correspond to reduced levels of HAX-1. Frataxin overexpression and silencing were also performed in the AC16 human cardiomyocyte cell line. HAX-1 protein levels are indeed regulated through frataxin modulation. Moreover, correlation between frataxin and HAX-1 was further evaluated in peripheral blood mononuclear cells (PBMCs) from FRDA patients and from non-related healthy controls. A regression model for frataxin which included HAX-1, group membership and group* HAX-1 interaction revealed that frataxin and HAX-1 are associated both at mRNA and protein levels. Additionally, a linked expression of FXN, HAX-1 and antioxidant defense proteins MnSOD and Nrf2 was observed both in PBMCs and AC16 cardiomyocytes. This study suggests that HAX-1 could be considered as a potential biomarker of cardiac disease in FRDA and the evaluation of its expression might provide insights into its pathogenesis as well as improving risk stratification strategies.

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