Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit†

Saccà, F., Piro, R., De Michele, G., Acquaviva, F., Antenora, A., Carlomagno, G., Cocozza, S., Denaro, A., Guacci, A., Marsili, A., Perrotta, G., Puorro, G., Cittadini, A. and Filla, A. , Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit. Movement Disorders, n/a. doi: 10.1002/mds.23435

Tags: efficacy, safety, and tolerability, two single doses of Epoetin alfa, Friedreich's ataxia, subcutaneously, frataxin, did not affect hematocrit, cardiac function, and neurological scale, phlebotomy, lack of erythropoietic effect.

The benefits and limitations of animal models for translational research in neurodegenerative diseases

Nature Medicine 16, 1210 - 1214 (2010), doi:10.1038/nm.2224

Mathias Jucker is at the Department of Cellular Neurology, Hertie Institute for Clinical Brain Research, University of Tübingen, and the DZNE-German Center for Neurodegenerative Diseases, Tübingen, Germany.

The Herrenhausen Symposium on Neurodegeneration

Nature Medicine 16, 1200 (2010), Published online: 4 November 2010 | doi:10.1038/nm1110-1200

Although the pathological hallmarks of neurodegenerative diseases have been described for over 100 years, our understanding of the molecular events leading to neuronal death has emerged over the past two decades. Despite all of this progress in basic research, why do we still lack disease-modifying therapeutics?

Use of botulinum toxin in the neurology clinic

Nature Reviews Neurology 6, 624-636 (November 2010) | doi:10.1038/nrneurol.2010.149

Erle C. H. Lim & Raymond C. S. Seet

Keywords: Botulinum neurotoxin (BoNT), Electromyography, endoscopy, imaging techniques, ultrasonography, fluoroscopy, mechanisms of action, neurological conditions, dystonia, spasticity, headaches,painful disorders, hemifacial spasm, essential tremor, motor tics, hyperhidrosis, sialorrhea, dosing, and methods of administration.

Differentiating Impairment Levels in Temporal Versus Spatial Aspects of Linguopalatal Contacts in Friedreich's Ataxia.

Motor Control. 2010 Oct;14(4):490-508.

Folker JE, Murdoch BE, Cahill LM, Rosen KM, Delatycki MB, Corben LA, Vogel AP.

School of Health and Rehabilitation Sciences, The University of Queensland, St Lucia, Qld,
Australia.

Keywords; Electropalatography (EPG), pattern of linguopalatal contact, consonant phase durations, dysarthria, Friedreich's ataxia (FRDA), articulatory impairment in FRDA.

Getting to the Core of Repeat Expansions by Cell Reprogramming

Cell Stem Cell, Volume 7, Issue 5, 545-546, 5 November 2010, doi:10.1016/j.stem.2010.10.005.

Sergei M. Mirkin

Keywords: iPSCS, Friedreich's ataxia, (GAA)n repeat, repeat instability, epigenetic signature.

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Scripps Research team implicates wayward DNA-repair enzyme in Friedreich's ataxia

Easy to understand explanation of this recently published paper

Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability.

Various sources:

http://www.physorg.com/news/2010-11-implicate-wayward-dna-repair-enzyme-friedreich.html

http://www.sciencecodex.com/scripps_research_team_implicates_wayward_dnarepair_enzyme_in_friedreichs_ataxia

TRPing up the genome: tandem repeat polymorphisms as dynamic sources of genetic variability in health and disease.

Discov Med. 2010 Oct;10(53):314-21.

Hannan AJ.
Howard Florey Institute, Florey Neuroscience Institutes and Department of Anatomy and Cell Biology, University of Melbourne, Melbourne, Victoria 3010, Australia

Keyword: Repetitive DNA sequences, tandem repeat polymorphisms (TRPs), genomic variability, post-mitotic instability, neuronal function and dysfunction, single nucleotide polymorphisms (SNPs), monogenic disorders, Huntington's disease, spinocerebellar ataxias, polyglutamine diseases, Friedreich ataxia, fragile X syndrome, myoclonic epilepsy, polyalanine disorders, myotonic dystrophy. "missing heritability".

Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability.

Cell Stem Cell. 2010 Nov 5;7(5):631-7.

Ku S, Soragni E, Campau E, Thomas EA, Altun G, Laurent LC, Loring JF, Napierala M, Gottesfeld JM.

Department of Molecular Biology, The Scripps Research Institute, 10550 N. Torrey Pines Road, La Jolla, CA 92037, USA.

Keywords: Friedreich's ataxia (FRDA), GAA⋅TTC triplet repeat, frataxin, heterochromatin-mediated gene silencing, induced pluripotent stem cells (iPSCs), fibroblasts, repeat instability, repair enzyme MSH2, shRNA silencing of MSH2.

Neuronal inactivation of PPAR{gamma} Coactivator 1{alpha}(PGC-1{alpha}) protects mice from diet-induced obesity and leads to degenerative lesions.

J Biol Chem. 2010 Oct 13. [Epub ahead of print]

Ma D, Li S, Lucas EK, Cowell RM, Lin JD.
Life Sciences Institute and Department of Cell & Developmental Biology, University of Michigan;


These studies have demonstrated a physiological role for neuronal PGC-1α in the control of energy balance and strongly suggest that neuronal PGC-1α exerts profound effects on the neural circuitry that governs systemic energy balance.

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Remark: Interesting conclusions about the action of PGC1-alpha in the neurons, I would like to emphasize that the action of PGC1-a is greatly diminished in the FA.