Iron and Diabetes Risk

Iron and Diabetes Risk, Judith A. Simcox, Donald A. McClain; Cell Metabolism, Volume 17, Issue 3, 5 March 2013, Pages 329-341, http://dx.doi.org/10.1016/j.cmet.2013.02.007

Friedreich ataxia is associated with increased prevalence of type 2 diabetes. Abnormal IRP1 activity is seen in patients with Friedreich ataxia. It's thought frataxin is an iron chaperone or storage protein. IRP1 aconitase activity is decreased, while IRP binding to IREs is increased.

Iron and Copper in Mitochondrial Diseases

Iron and Copper in Mitochondrial Diseases, Wenjing Xu, Tomasa Barrientos, Nancy C. Andrews; Cell Metabolism, Volume 17, Issue 3, 5 March 2013, Pages 319-328


Fe-S cluster biogenesis may not be as severely affected in patients with Friedreich’s ataxia or animals carrying FXN mutations. Mitochondrial Fe accumulation has been reported (Lamarche et al., 1980; Puccio et al., 2001), but others suggest that it is an inconsistent and late finding (Bayot et al., 2011). However, Fxn-deficient mouse cells do show altered expression of genes that favor Fe uptake and mitochondrial import over Fe storage and export (Huang et al., 2009).

Friedreich's ataxia–associated GAA repeats induce replication-fork reversal and unusual molecular junctions

Friedreich's ataxia–associated GAA repeats induce replication-fork reversal and unusual molecular junctions. Cindy Follonier, Judith Oehler, Raquel Herrador & Massimo Lopes. Nature Structural & Molecular Biology (2013), Published online 03 March 2013, doi:10.1038/nsmb.2520

Keywords: Expansion of GAA/TTC repeats, mechanisms of replication interference and expansion, in vivo replication structures at GAA repeats, replication-associated intramolecular junctions, homopurine-homopyrimidine tracts, postreplicative mechanisms.

I JORNADA DE INVESTIGACIÓN EN ATAXIA DE FRIEDREICH

I JORNADA DE INVESTIGACIÓN EN ATAXIA DE FRIEDREICH

Screening for DNA-repair gene could predict rate of progress of Huntington’s disease, muscular dystrophy

Screening for DNA-repair gene could predict rate of progress of Huntington’s disease, muscular dystrophy, Polly Thompson The Hospital for Sick Children (Canada).

The genetic repair function is also important in Friedreich’s ataxia and at least 13 other neurodegenerative and neuromuscular diseases.

Citation: Tomé S, Manley K, Simard JP, Clark GW, Slean MM, et al. (2013) MSH3 Polymorphisms and Protein Levels Affect CAG Repeat Instability in Huntington's Disease Mice. PLoS Genet 9(2): e1003280. doi:10.1371/journal.pgen.1003280.

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Abnormal body iron distribution and erythropoiesis in a novel mouse model with inducible gain of iron regulatory protein (IRP)-1 function

Abnormal body iron distribution and erythropoiesis in a novel mouse model with inducible gain of iron regulatory protein (IRP)-1 function. D. Casarrubea, L. Viatte, T. Hallas, A. Vasanthakumar, R. S. Eisenstein, K. Schümann, M. W. Hentze, B. Galy. Journal of Molecular Medicine; March 2013, DOI 10.1007/s00109-013-1008-2.

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Inappropriately high IRP1 activity causes disturbed body iron distribution and erythropoiesis. This new mouse model further highlights the importance of appropriate IRP regulation in central organs of iron metabolism. Moreover, it opens novel avenues to study diseases associated with abnormally high IRP1 activity, such as Parkinson’s disease or Friedreich’s ataxia.

Les centres maladies rares en neurologie ont- ils changé les pratiques et la prise en charge dans les ataxies cérebelleuses héréditaires ?

Have centers of rare neurological diseases changed their practices and management of the hereditary cerebellar ataxias?. C. Tranchant; Revue Neurologique, Volume 169, Supplement 1, February 2013, Pages S23-S27

Les centres maladies rares en neurologie ont- ils changé les pratiques et la prise en charge dans les ataxies cérebelleuses héréditaires ?

Keywords: Recessive cerebellar ataxia, Dominant cerebellar ataxia, FXTAS, Friedreich's ataxia.

Paper in French

After ataxia withdrawal, Santhera considers strategic moves

After ataxia withdrawal, Santhera considers strategic moves. Santhera Pharmaceuticalsnews release,
February 28, 2013

What is the cost of rare diseases such as Friedreich's Ataxia?

What is the cost of rare diseases such as Friedreich's Ataxia?. Medical Xpress, February 27, 2013

What is the cost of rare diseases such as Friedreich's Ataxia? By analyzing direct and indirect costs of care research in BioMed Central's open access journal Orphanet Journal of Rare Diseases calculated that conservatively this rare disease costs between £11,000 and £19,000 per person per year. Proper understanding resource allocation is important in minimizing the effect of Friedreich's Ataxia on people's lives while maximizing their quality of life.

Impact of Friedreich's Ataxia on health-care resource utilization in the United Kingdom and Germany. Paola Giunti, Julia Greenfield, Alison J Stevenson, Michael H Parkinson, Jodie L Hartmann, Ruediger Sandtmann, James Piercy, Jamie O'Hara, Leo Ruiz Casas and Fiona M Smith, Orphanet Journal of Rare Diseases 2013, 8:38 doi:10.1186/1750-1172-8-38

Santhera to Discontinue Sale of Catena® in Canada

Santhera to Discontinue Sale of Catena® in Canada. 12:40 EST 27 Feb 2013 | Thomson Reuters.

Liestal, Switzerland, February 27, 2013 - Santhera Pharmaceuticals (SIX: SANN) announced today the voluntary withdrawal of Catena® from the Canadian market. This decision follows review of additional data from clinical trials in patients with Friedreich's Ataxia, and subsequent consultation with Health Canada.

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