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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.

Preventing the ubiquitin/proteasome-dependent degradation of frataxin, the protein defective in Friedreich's Ataxia

Friedreich’s Ataxia (FRDA) is a devastating orphan disease, with no specific treatment. The disease is caused by reduced expression of the protein frataxin, which results in mitochondrial defects and oxidative damage. Levels of residual frataxin critically affect onset and progression of the disease. Understanding the molecular mechanisms that regulate frataxin stability and degradation, may therefore be exploited for the design of effective therapeutics.

Preventing the ubiquitin/proteasome-dependent degradation of frataxin, the protein defective in Friedreich's Ataxia

2010 FARA Scientific News

Scientific News


Generation of Induced Pluripotent Stem Cell Lines from Friedreich Ataxia Patients
Liu J, Verma PJ, Evans-Galea MV, Delatycki MB, Michalska A, Leung J, Crombie D, Sarsero JP, Williamson R, Dottori M, Pébay A
Stem Cell Rev. 2010 Dec 22. [Epub ahead of print]

Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome
Raman SV, Phatak K, Hoyle JC, Pennell ML, McCarthy B, Tran T, Prior TW, Olesik JW, Lutton A, Rankin C, Kissel JT, Al-Dahhak R
Eur Heart J. 2010 Dec 14. [Epub ahead of print]

The Neuropathology of Late-Onset Friedreich's Ataxia
Koeppen AH, Morral JA, McComb RD, Feustel PJ
Cerebellum. 2010 Dec 4. [Epub ahead of print]

Axial diffusivity is increased in the degenerating superior cerebellar peduncles of Friedreich's ataxia
Della Nave R, Ginestroni A, Diciotti S, Salvatore E, Soricelli A,
Mascalchi M
Neuroradiology. 2010 Dec 3. [Epub ahead of print]

Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells
Kumari D, Biacsi RE, Usdin K
J Biol Chem. 2010 Dec 2. [Epub ahead of print]

Activation of mitochondrial energy metabolism protects against cardiac failure
Tim J. Schulz, Dirk Westermann, Frank Isken, Anja Voigt, Beate Laube, René Thierbach, Doreen Kuhlow1, Kim Zarse, Lutz Schomburg, Andreas F. H. Pfeiffer, Carsten Tschöpe, Michael Ristow
AGING, November 2010, Vol 2 N 11
Commentary on this article in PDF format

Feasibility of Implantable Cardioverter Defibrillator Treatment in Five Patients With Familial Friedreich's Ataxia-A Case Series
Coskun KO, Popov AF, Schmitto JD, Coskun ST, Brandes I, Zenker D, Melnychenko I, Schoendube FA, Ruschewski W
Artif Organs. 2010 Nov;34(11):1061-1065.

Superior Cerebellar Peduncle Atrophy in Friedreich's Ataxia Correlates with Disease Symptoms
Akhlaghi H, Corben L, Georgiou-Karistianis N, Bradshaw J, Storey E, Delatycki MB, Egan GF
Cerebellum. 2010 Nov 24. [Epub ahead of print]

The Test of Everyday Attention Reveals Significant Sustained Volitional Attention and Working Memory Deficits in Friedreich Ataxia
Klopper F, Delatycki MB, Corben LA, Bradshaw JL, Rance G, Georgiou-Karistianis N
J Int Neuropsychol Soc. 2010 Nov 17:1-5. [Epub ahead of print]

Whole-body vibration alters blood flow velocity and neuromuscular activity in Friedreich's ataxia
Herrero AJ, Martín J, Martín T, García-López D, Garatachea N, Jiménez B, Marín PJ
Clin Physiol Funct Imaging. 2010 Nov 15.

Spectral measures of the effects of Friedreich's ataxia on speech
KM Rosen, JE Folker, BE Murdoch, AP Vogel, LM Cahill, MB Delatycki, and LA Corben
Int J Speech Lang Pathol 9 Nov 2010.

Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit
Francesco Saccà MD, Raffaele Piro MD, Giuseppe De Michele MD, Fabio Acquaviva MD, Antonella Antenora MD, Guido Carlomagno MD, Sergio Cocozza MD, Alessandra Denaro MBiol, Anna Guacci MBiol, Angela Marsili MBiol, Gaetano Perrotta MD, Giorgia Puorro MBiol, Antonio Cittadini MD, Alessandro Filla MD
DOI: 10.1002/mds.23435

Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA·TTC Triplet Repeat Instability
Ku S, Soragni E, Campau E, Thomas EA, Altun G, Laurent LC, Loring JF, Napierala M, Gottesfeld JM
Cell Stem Cell. 2010 Nov 5;7(5):631-7.

Getting to the core of repeat expansions by cell reprogramming
Mirkin SM
Cell Stem Cell. 2010 Nov 5;7(5):545-6.

Exploration of transitional life events in individuals with Friedreich ataxia: Implications for genetic counseling
White VB, Leib JR, Farmer JM, Biesecker BB
Behav Brain Funct. 2010 Oct 27;6(1):65. [Epub ahead of print]

Structural bases for the interaction of frataxin with the central components of iron-sulphur cluster assembly
Prischi F, Konarev PV, Iannuzzi C, Pastore C, Adinolfi S, Martin SR, Svergun DI, Pastore A
Nat Commun. 2010 Oct;1(7):95.

Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction
Mar Xunclà, Laia Rodríguez-Revenga, Irene Madrigal, Dolores Jiménez, Montserrat Milà, Cèlia Badenas
Translational Research Volume 156, Issue 5, Pages 309-314 (November 2010)

Electrophysiology of Respiratory Chain Complexes and ADP/ATP Exchanger in Native Mitochondrial Membranes
Watzke N, Diekert K, Obrdlik P
Biochemistry. 2010 Oct 19. [Epub ahead of print]

Normal and Friedreich ataxia cells express different isoforms of frataxin with complementary roles in iron-sulfur cluster assembly
Gakh O, Bedekovics T, Duncan SF, Smith DY 4th, Berkholz DS, Isaya G
J Biol Chem. 2010 Oct 2.

Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex
Tsai CL, Barondeau DP
Biochemistry. 2010 Sep 27.

Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich's Ataxia
Velasco-Sánchez D, Aracil A, Montero R, Mas A, Jiménez L, O'Callaghan M, Tondo M, Capdevila A, Blanch J, Artuch R, Pineda M
Cerebellum. 2010 Sep 24.

Restless Legs and Substantia Nigra Hypoechogenicity are Common Features in Friedreich's Ataxia
M Synofzik, J Godau, T Lindig, L Schols, and D Berg
Cerebellum, September 24, 2010;

Successful treatment of auditory perceptual disorder in individuals with Friedreich ataxia
Rance G, Corben LA, Du Bourg E, King A, Delatycki MB
Neuroscience. 2010 Sep 17.

Role of transcript and interplay between transcription and replication in triplet-repeat instability in mammalian cells
Paul M. Rindler and Sanjay I. Bidichandani
Nucleic Acids Res. published 09-14-2010

Current and emerging treatment options in the management of Friedreich ataxia
Mancuso M, Orsucci D, Choub A, Siciliano G
Neuropsychiatr Dis Treat. 2010 Sep 7;6:491-9.

The Friedreich's Ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals
Thierbach R, Drewes G, Fußer M, Voigt A, Kuhlow D, Blume U, Schulz TJ, Reiche C, Glatt H, Epe B, Steinberg P, Ristow M
Biochem J. 2010 Sep 6.

Molecular Details of the Yeast Frataxin-Isu1 Interaction during Mitochondrial Fe-S Cluster Assembly
eremy D. Cook, Kalyan C. Kondapalli, Swati Rawat, William C. Childs, Yogapriya Murugesan, Andrew Dancis, and Timothy L. Stemmler
Biochemistry, 2010, 49 (40), pp 8756-8765

Protective effects of transduced PEP-1-Frataxin protein on oxidative stress-induced neuronal cell death
Kim MJ, Kim DW, Yoo KY, Sohn EJ, Jeong HJ, Kang HW, Shin MJ, Ahn EH, An JJ, Kwon SW, Kim YN, Won MH, Cho SW, Park J, Eum WS, Choi SY
J Neurol Sci. 2010 Sep 2.

Prospects for the use of artificial chromosomes and minichromosome-like episomes in gene therapy
Pérez-Luz S, Díaz-Nido J
J Biomed Biotechnol. 2010;2010. pii: 642804.

Expression of Human Frataxin Is Regulated by Transcription Factors SRF and TFAP2
Li K, Singh A, Crooks DR, Dai X, Cong Z, Pan L, Ha D, Rouault TA
PLoS One. 2010 Aug 20;5(8). pii: e12286

Frataxin and mitochondrial Fe-S cluster biogenesis
Timothy L. Stemmler, Emmanuel Lesuisse, Debkumar Pain, and Andrew Dancis
J. Biol. Chem. published 3 June 2010, 10.1074/jbc.R110.118679

1H MR Spectroscopy in Friedreich's Ataxia and Ataxia with Oculomotor Apraxia Type 2
Isabelle Iltis, Diane Hutter, Khalaf O. Bushara, H. Brent Clark, Myron Gross, Lynn E. Eberly, Christopher M. Gomez and Gülin Öz

Defects in Mitochondrial Axonal Transport and Membrane Potential without Increased Reactive Oxygen Species Production in a Drosophila Model of Friedreich Ataxia
Yujiro Shidara and Peter J. Hollenbeck
The Journal of Neuroscience, August 25, 2010, 30(34):11369-11378; doi:10.1523/JNEUROSCI.0529-10.2010

Synthesis and characterization of mitoQ and idebenone analogues as mediators of oxygen consumption in mitochondria
Damien Y. Duveau, Pablo M. Arce, Robert A. Schoenfeld, Nidhi Raghav, Gino A. Cortopassi, and Sidney M. Hecht

A Phase 3, Double-blind, Placebo-Controlled Trial of Idebenone in Friedreich Ataxia
David R. Lynch, Susan L. Perlman, and Thomas Meier
Arch Neurol. 2010; 67(8): p. 941-947

A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia
Deutsch EC, Santani AB, Perlman SL, Farmer JM, Stolle CA, Marusich MF, Lynch DR.
Mol Genet Metab. 2010 Jul 8. [Epub ahead of print]

Exercise Capacity and Idebenone Intervention in Children and Adolescents With Friedreich Ataxia
Bart E. Drinkard MSPT, Randall E. Keyser PhD, Scott M. Paul MD, Ross Arena PhD, PT, Jonathan F. Plehn MD, Jack A. Yanovski MD, PhD and Nicholas A. Di Prospero MD, PhD
Arch Phys Med Rehabil. 2010 Jul;91(7):1044-50.

Low predisposition to instability of the Friedreich ataxia gene in Cuban population
Tania Cruz-Marino, Yanetza Gonzalez-Zaldivar, Jose Miguel laffita-Mesa, Raul Aguilera-Rodriguez, Luis Velazquez-Perez
Clin Genet. 2010 Jun;77(6):598-600

Evaluation of neuropsychological functions in patients with Friedreich ataxia before and after cognitive therapy
Ciancarelli I, Cofini V, Carolei A
Funct Neurol. 2010 Apr-Jun;25(2):81-5.

Transposon Tn7 Preferentially Inserts into GAA-TTC Triplet Repeats under Conditions Conducive to Y-R-Y Triplex Formation
Miriam Mancuso, Mimi C. Sammarco, Ed Grabczyk
PLoS One. 2010 Jun 15;5(6):e11121

Frataxin and mitochondrial Fe-S cluster biogenesis
Timothy L. Stemmler, Emmanuel Lesuisse, Debkumar Pain, Andrew Dancis
J. Biol. Chem. published 3 June 2010, 10.1074/jbc.R110.118679

Variations of frataxin protein levels in normal individuals
Boehm T, Scheiber-Mojdehkar B, Kluge B, Goldenberg H, Laccone F, Sturm B
Neurol Sci. 2010 May 27. [Epub ahead of print]

Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol
Des R. Richardson, Darius J. R. Lane, Erika M. Becker, Michael L.-H. Huang, Megan Whitnall, Yohan Suryo Rahmanto, Alex D. Sheftel, and Prem Ponka
PNAS. published 21 May 2010, 10.1073/pnas.0912925107

Human iron-sulfur cluster assembly, cellular iron homeostasis and disease
Ye H, Rouault TA
Biochemistry. 2010 May 18. [Epub ahead of print]

Friedreich's ataxia cardiomyopathy: case based discussion and management issues
Hanley A, Corrigan R, Mohammad S, MacMahon B
Ir Med J. 2010 Apr;103(4):117-8.

Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia
Rajagopalan B, Francis JM, Cooke F, Korlipara LV, Blamire AM, Schapira AH, Madan J, Neubauer S, Cooper JM
Mov Disord. 2010 May 15;25(7):846-52.

Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications
Friedman LS, Paulsen EK, Schadt KA, Brigatti KW, Driscoll DA, Farmer JM, Lynch DR
Am J Obstet Gynecol. 2010 May 15

Ocular Motor Fixation Deficits in Friedreich Ataxia
Hocking DR, Fielding J, Corben LA, Cremer PD, Millist L, White OB, Delatycki MB
Cerebellum. 2010 May 15. [Epub ahead of print]

Altered lipid metabolism in a Drosophila model of Friedreich's ataxia
Juan A. Navarro, Elisabeth Ohmann, Diego Sanchez, Jose A. Botella, Gerhard Liebisch, Maria D. Molto, Maria D. Ganfornina, Gerd Schmitz, and Stephan Schneuwly
Hum. Mol. Genet. published 10 May 2010, 10.1093/hmg/ddq183

Carbamylated erythropoietin increases frataxin independent from the erythropoietin receptor
Sturm B, Helminger M, Steinkellner H, Heidari MM, Goldenberg H, Scheiber-Mojdehkar B
Eur J Clin Invest. 2010 Apr 28. [Epub ahead of print]

Nitric oxide and frataxin: two players contributing to maintain cellular iron homeostasis
Leonor Ramirez, Eduardo Julian Zabaleta, and Lorenzo Lamattina
Ann. Bot. 2010; 105(5): p. 801-810

Dysarthria in Friedreich's Ataxia: A Perceptual Analysis
Joanne Folker, Bruce Murdoch, Louise Cahill, Martin Delatycki, Louise Corben, Adam Vogel
Folia Phoniatr Logop 2010;62:97-103 (DOI: 10.1159/000287207)

Understanding the molecular mechanisms of Friedreich Ataxia to develop therapeutic approaches
Schmucker S, Puccio H
Hum Mol Genet. 2010 Apr 22. [Epub ahead of print]
PMID: 20413654 [PubMed - as supplied by publisher]

Intermediate-dose idebenone and quality of life in Friedreich ataxia
Brandsema JF, Stephens D, Hartley J, Yoon G
Pediatr Neurol. 2010 May;42(5):338-42.

Health-related quality of life in children with Friedreich ataxia
Paulsen EK, Friedman LS, Myers LM, Lynch DR
Pediatr Neurol. 2010 May;42(5):335-7.

Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation
Kakhlon O, Breuer W, Munnich A, Cabantchik ZI
Can J Physiol Pharmacol. 2010 Mar;88(3):187-96.

Influence of Genetic Factors on Left Ventricular Structure and Function in Friedreich's Ataxia
Sarah Lagedrost, Ted Plappert, Martin St John Sutton, and David Lynch
J. Am. Coll. Cardiol. 2010; 55(10_MeetingAbstracts): p. A27.E259

Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation
Punga T, Buhler M
EMBO Mol Med. 2010 Apr 1;2(4):120-129. [Epub ahead of print]

Therapeutic use of coenzyme Q(10) and coenzyme Q(10)-related compounds and formulations
Villalba JM, Parrado C, Santos-Gonzalez M, Alcain FJ
Expert Opin Investig Drugs. 2010 Apr;19(4):535-54.

North and South Indian Populations Share a Common Ancestral Origin of Friedreich's Ataxia but Vary in Age of GAA Repeat Expansion
Singh I, Faruq M, Mukherjee O, Jain S, Pal PK, Srivastav MV, Behari M, Srivastava AK, Mukerji M
Ann Hum Genet. 2010 Mar 31. [Epub ahead of print]

PGC-1alpha Down-Regulation Affects the Antioxidant Response in Friedreich's Ataxia
Daniele Marmolino, Mario Manto, Fabio Acquaviva, Paola Vergara, Ajay Ravella, Antonella Monticelli, Massimo Pandolfo

Pathology and pathogenesis of sensory neuropathy in Friedreich's ataxia
Morral JA, Davis AN, Qian J, Gelman BB, Koeppen AH
Acta Neuropathol. 2010 Mar 26. [Epub ahead of print]

Friedreich ataxia presenting as sudden cardiac death in childhood: Clinical, genetic and pathological correlation, with implications for genetic testing and counselling
Quercia N, Somers GR, Halliday W, Kantor PF, Banwell B, Yoon G.
Neuromuscul Disord. 2010 Mar 23. [Epub ahead of print]

Evidence that yeast frataxin is not an iron storage protein In Vivo
Alexandra Seguin, Robert Sutak, Anne-Laure-Bulteau, Richard Garcia-Serres, Jean-Louis Oddou, Sophie Lefevre, Renata Santos, Andrew Dancis, Jean-Michel Camadro, Jean-Marc Latour, and Emmanuel Lesuisse

Does oxidative stress contribute to the pathology of Friedreich's ataxia? A radical question
Jeffrey S. Armstrong, Omar Khdour, and Sidney M. Hecht
Published online before print March 10, 2010 as doi: 10.1096/fj.09-143222

Prevalence of interatrial block in patients with Friedreich's Ataxia
Panas M, Gialafos E, Spengos K, Papaioannou TG, Aggeli K, Kladi A, Siasos G, Gialafos J, Vassilopoulos D, Stefanadis C
Int J Cardiol. 2010 Mar 6. [Epub ahead of print] PMID: 20211503

A role for p53 in mitochondrial stress response control of longevity in C. elegans
Torgovnick A, Schiavi A, Testi R, Ventura N
Exp Gerontol. 2010 Feb 18. [Epub ahead of print] PMID: 20172019

Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia
Diehl B, Lee MS, Reid JR, Nielsen CD, Natowicz MR
Neurogenetics. 2010 Feb 17. [Epub ahead of print] PMID: 20162437

Santos R, Lefevre S, Sliwa D, Seguin A, Camadro JM, Lesuisse E
Antioxid Redox Signal. 2010 Feb 16. [Epub ahead of print] PMID: 20156111

Automatic method of pause measurement for normal and dysarthric speech
Kristin Rosen, Bruce Murdoch, Joanne Folker, Adam Vogel, Louise Cahill, Martin Delatycki, Louise Corben
Clinical Linguistics & Phonetics, 2010, Vol. 24, No. 2, Pages 141-154.

Frataxin, a molecule of mystery: trading stability for function in its iron-binding site
Darius J. R. Lane and Des R. Richardson
Biochem J. 2010 Feb 9;426(2):e1-3.

Flavin Adenine Dinucleotide Rescues the Phenotype of Frataxin Deficiency
Pilar Gonzalez-Cabo, Sheila Ros, Francesc Palau
PLoS ONE 5(1): e8872. doi:10.1371/journal.pone.0008872

Two New Pimelic Diphenylamide HDAC Inhibitors Induce Sustained Frataxin Upregulation in Cells from Friedreich's Ataxia Patients and in a Mouse Model
Myriam Rai, Elisabetta Soragni, C. James Chou, Glenn Barnes, Steve Jones, James R. Rusche, Joel M. Gottesfeld, Massimo Pandolfo
PLoS ONE 5(1): e8825. doi:10.1371/journal.pone.0008825

A high throughput electrochemiluminescence assay for the quantification of frataxin protein levels
Steinkellner H, Scheiber-Mojdehkar B, Goldenberg H, Sturm B
Anal Chim Acta. 2010 Feb 5;659(1-2):129-32. Epub 2009 Nov 27.

Altered Gene Expression and DNA Damage in Peripheral Blood Cells from Friedreich''s Ataxia Patients: Cellular Model of Pathology
Astrid C. Haugen, Nicholas A. Di Prospero, Joel S. Parker, Rick D. Fannin, Jeff Chou, Joel N. Meyer, Christopher Halweg, Jennifer B. Collins, Alexandra Durr, Kenneth Fischbeck, Bennett Van Houten
PLoS Genet 6(1): e1000812. doi:10.1371/journal.pgen.1000812

Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design
Friedman LS, Farmer JM, Perlman S, Wilmot G, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Balcer LJ, Wilson RB, Lynch DR
Mov Disord. 2010 Jan 8. [Epub ahead of print]

Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin
Ivano Condo, Florence Malisan, Ilaria Guccini, Dario Serio, Alessandra Rufini, and Roberto Testi
Hum. Mol. Genet. published 6 January 2010, 10.1093/hmg/ddp592

Generation of Induced Pluripotent Stem Cell Lines from Friedreich Ataxia Patients

Friedreich ataxia (FRDA) is an autosomal recessive disorder characterised by neurodegeneration and cardiomyopathy. It is caused by a trinucleotide (GAA) repeat expansion in the first intron of the FXN gene that results in reduced synthesis of FXN mRNA and its protein product, frataxin.

Generation of Induced Pluripotent Stem Cell Lines from Friedreich Ataxia Patients

Improved Histone Deacetylase Inhibitors as Therapeutics for the Neurodegenerative Disease Friedreich's Ataxia: A New Synthetic Route

Friedreich’s ataxia (FRDA) is caused by transcriptional repression of the nuclear FXN gene encoding the essential mitochondrial protein frataxin. Based on the hypothesis that the acetylation state of the histone proteins is responsible for gene silencing in FRDA, previous work in our lab identified a first generation of HDAC inhibitors (pimelic o-aminobenzamides), which increase FXN mRNA in lymphocytes from FRDA patients. Importantly, these compounds also function in a FRDA mouse model to increase FXN mRNA levels in the brain and heart.

Improved Histone Deacetylase Inhibitors as Therapeutics for the Neurodegenerative Disease Friedreich's Ataxia: A New Synthetic Route

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