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.

OPEN ACCESS

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.