Increased prevalence of sleep-disordered breathing in Friedreich ataxia.

Increased prevalence of sleep-disordered breathing in Friedreich ataxia. Corben LA, Ho M, Copland J, Tai G, Delatycki MB.; Neurology. 2013 May 22. doi: 10.1212/WNL.0b013e318297ef18

Keywords: sleep-disordered breathing (SDB), Epworth Sleepiness Scale, obstructive sleep apnea syndrome.

High-dose thiamine improves the symptoms of Friedreich's ataxia

High-dose thiamine improves the symptoms of Friedreich's ataxia. Antonio Costantini, Rafaela Giorgi, Sonia D'Agostino, Maria Immacolata Pala. BMJ Case Reports 2013; doi:10.1136/bcr-2013-009424

Keywords: Friedreich's ataxia (FRDA), thiamine deficiency.

Iron-Sulfur Cluster Proteins Discussion Meeting 2013

Iron-Sulfur Cluster Proteins Discussion Meeting 2013. NIMR 19 April.

The meeting attracts excellent scientists from across the UK and the world and provides a great forum for informal discussions on topics related to iron-sulfur cluster structure, function, evolution and biogenesis. Annalisa Pastore

Program and abstracts

Perceived Effectiveness and Barriers to Physical Therapy Services for Families and Children With Friedreich Ataxia.

Perceived Effectiveness and Barriers to Physical Therapy Services for Families and Children With Friedreich Ataxia. Maring, Joyce PT, DPT, EdD; Croarkin, Earllaine PT, NCS; Morgan, Sylvia PT, DPT; Plack, Margaret PT, EdD.; Pediatr Phys Ther. 2013 May 16. doi: 10.1097/PEP.0b013e31828ed7cb

Keywords:physical therapy interventions, Friedreich ataxia (FA), barriers to therapy.

RG2833 is Well-Tolerated and Increases Frataxin Gene Activity

RG2833 is Well-Tolerated and Increases Frataxin Gene Activity. by Amy Madsen on May 17, 2013, Quest Magazine Online (MDA)


Article Highlights:

-Interim results from a clinical trial of RG2833 in people with Friedreich’s ataxia (FA) show that the experimental drug is well-tolerated, and that it appears to act by increasing frataxin gene activity (frataxin protein deficiency is the cause of FA).
-The main aim of the ongoing trial is to assess the safety of RG2833 in people with FA.
-Through its translational research program, MDA has awarded Repligen two grants, totaling more than $1.7 million, to fund development of RG2833 for FA.
-While the encouraging results are an important step forward in finding new drugs, Repligen's Jim Rusche said more tests will be required before a drug like this can be available as a safe and effective treatment for FA.

A Novel PGC-1α Isoform in Brain Localizes to Mitochondria and Associates with PINK1 and VDAC

A Novel PGC-1α Isoform in Brain Localizes to Mitochondria and Associates with PINK1 and VDAC. Joungil Choi, Vera Venkatanaresh Kumar Batchu, Manfred Schubert, Rudolph J. Castellani, James W. Russell. Biochemical and Biophysical Research Communications, Available online 17 May 2013.

Down-regulation of PGC-1α is associated with mitochondrial dysfunction and impaired lipid metabolism in obesity and diabetes both of which increases the risk of neurodegenerative diseases. Down-regulation of PGC-1α also have been reported in Friedreich's ataxia.

Development of Frataxin Gene Expression Measures for the Evaluation of Experimental Treatments in Friedreich’s Ataxia

Development of Frataxin Gene Expression Measures for the Evaluation of Experimental Treatments in Friedreich’s Ataxia . Heather L. Plasterer, Eric C. Deutsch, Matthew Belmonte, Elizabeth Egan, David R. Lynch, James R. Rusche; PLoS ONE 8(5): e63958. doi:10.1371/journal.pone.0063958

Conclusions/Significance

Our data support the use of frataxin as a biomarker of drug effect. Frataxin levels are stable over time and as such a 1.5 to 2-fold change would be detectable over normal biological fluctuations. Additionally, our data support buccal cells or PBMCs as sources for measuring frataxin protein in therapeutic trials.

[2Fe-2S]-Ferredoxin binds directly to cysteine desulfurase and supplies an electron for iron-sulfur cluster assembly but is displaced by the scaffold protein or bacterial frataxin

[2Fe-2S]-Ferredoxin binds directly to cysteine desulfurase and supplies an electron for iron-sulfur cluster assembly but is displaced by the scaffold protein or bacterial frataxin. Jin Hae Kim , Ronnie O. Frederick , Nichole M. Reinen , Andrew T. Troupis , and John Lute Markley. J. Am. Chem. Soc., DOI: 10.1021/ja401950a

Keywords: Escherichia coli, [2Fe-2S]-ferredoxin (Fdx), iron-sulfur cluster biogenesis, IscU, and CyaY (bacterial frataxin).

Epigenetic mechanisms governing the process of neurodegeneration

Epigenetic mechanisms governing the process of neurodegeneration. Irfan A. Qureshi, Mark F. Mehler; Molecular Aspects of Medicine, Volume 34, Issue 4, July–August 2013, Pages 875-882. http://dx.doi.org/10.1016/j.mam.2012.06.011

Keywords: Chromatin, Epigenetic, Histone deacetylase, Histone modification, Neurodegenerative disease, Non-coding RNA.

From Mutation Identification to Therapy: Discovery and Origins of the First Approved Gene Therapy in the Western World

From Mutation Identification to Therapy: Discovery and Origins of the First Approved Gene Therapy in the Western World . John J.P. Kastelein, Colin J.D. Ross, and Michael R. Hayden. Human Gene Therapy. May 2013, 24(5): 472-478. doi:10.1089/hum.2013.063.

We hope soon have one similar paper for Friedreich's ataxia ....