Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by Vitamin B3

Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by Vitamin B3 . Ping K. Chan, Raul Torres, Cihangir Yandim, Pui P. Law, Sanjay Khadayate, Marta Mauri, Crina Grosan, Nadine Chapman-Rothe, Paola Giunti, Mark Pook, and Richard Festenstein. Hum. Mol. Genet. first published online March 7, 2013 doi:10.1093/hmg/ddt115

Keywords: triplet repeat sequence (GAA.TTC), transcriptional repression, Frataxin gene (FXN), Friedreich's ataxia (FRDA), heterochromatinization, H3K9me3, H3K27me3, class III HDAC inhibitor vitamin B3 (nicotinamide), H3 and H4 histone acetylations, nicotinamide.

INDAGINI STRUTTURALI SU METALLOPROTEINE MEDIANTE DIFFRATTOMETRIA DEI RAGGI X

INDAGINI STRUTTURALI SU METALLOPROTEINE MEDIANTE DIFFRATTOMETRIA DEI RAGGI X. UNIVERSITÀ DEGLI STUDI DI NAPOLI “FEDERICO II”, TESI DI DOTTORATO IN SCIENZE CHIMICHE, DOTTORANDO: Dott.ssa Marisa Franzese

 The Ph. D. research activity, carried out in collaboration with Dr. Pastore (MRC, London) and Prof. Peisach (AECOM, New York) groups, was focused on structural analysis of the two different metalloproteins: 1) Hemoglobin; 2) Frataxin.

About Frataxin: 9-13, 119-134

Excessive motor overflow reveals abnormal inter-hemispheric connectivity in Friedreich ataxia.

Excessive motor overflow reveals abnormal inter-hemispheric connectivity in Friedreich ataxia. Low SC, Corben LA, Delatycki MB, Ternes AM, Addamo PK, Georgiou-Karistianis N.; J Neurol. 2013 Mar 5. [Epub ahead of print]

Keywords: force variability, motor overflow, Friedreich ataxia (FRDA), finger-pressing task, cortico-cerebellar disruption, motor control. inter-hemispheric activity.

A double-blind, randomized, placebo-controlled, clinical trial to test the efficacy of Epoetin alfa on physical performance of Friedreich Ataxia patients (FriEMax).

A double-blind, randomized, placebo-controlled, clinical trial to test the efficacy of Epoetin alfa on physical performance of Friedreich Ataxia patients (FriEMax). FARA, Clinical Trial Newsletter, March 2013

Expression profile of Yeast Frataxin Mutants

Expression profile of Yeast Frataxin Mutants. Moreno-Cermeño A, Alsina D, Cabiscol E, Ros J, Tamarit J. ; NCBI, Gene expression Omnibus (GEO), Public on Mar 06, 2013

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.

 OPEN ACCESS