Exonic Deletions of FXN and Early-Onset Friedreich Ataxia

Arch Neurol. Published online March 12, 2012. doi:10.1001/archneurol.2011.834

Mathieu Anheim, MD, PhD; Louise-Laure Mariani, MD; Patrick Calvas, MD, PhD; Emmanuel Cheuret, MD; Fabien Zagnoli, MD; Sylvie Odent, MD; Claire Seguela, BS; Cecilia Marelli, MD; Marlène Fritsch, BS; Jean-Pierre Delaunoy, PhD; Alexis Brice, MD, PhD; Alexandra Dürr, MD, PhD; Michel Koenig, MD, PhD

Université Pierre et Marie Curie, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Institut National de la Santé et de la Recherche Médicale (INSERM), and Centre National de la Recherche Scientifique (CNRS) (Drs Anheim, Marelli, Brice, and Dürr), Assistance publique–Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Department of Genetics and Cytogenetics (Drs Anheim, Mariani, Marelli, Brice, and Dürr), and Centre de Référence des Maladies Neurogénétiques de l'Enfant et de l'Adulte (Drs Anheim, Marelli, Brice, and Dürr), Paris, Service de Génétique Médicale, Université de Toulouse, Hôpital Purpan (Dr Calvas), and Service de neuropédiatrie, Hopital des enfants (Dr Cheuret), Toulouse, Neurologie Hôpital d’Instruction des Armées Clermont-Tonnerre, Brest (Dr Zagnoli), Service de Génétique clinique CHU de Rennes, Université Rennes 1, CNRS (Dr Odent), Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Strasbourg (Mesdames Seguela and Fritsch and Drs Delaunoy and Koenig), and Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS, Université de Strasbourg, INSERM, Illkirch (Dr Koenig), France.

Keywords: Friedreich ataxia (FA), early onset, homozygous GAA expansions, FXN gene, point mutation, exonic deletion mutation (FAexdel), confinement to wheelchair, scoliosis, diabetes mellitus, cardiomyopathy.

The effect of lipoic acid and vitamin E therapies in individuals with the metabolic syndrome

Although there are large differences between FA and the metabolic syndrome, mitochondrial function is significantly impaired in both. Many ataxians are taking on a regular basis lipoic acid (ALA) and Vitamin E, it is interesting to know their effects on the heart and on insulin and glucose levels.

Nutrition, Metabolism & Cardiovascular Diseases - 09 March 2012,(10.1016/j.numecd.2011.11.006)

P.J. Manning, W.H.F. Sutherland, S.M. Williams, R.J. Walker, E.A. Berry, S.A. De Jong, A.R. Ryalls
Department of Medicine, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand

KEYWORDS: Antioxidant, Metabolic syndrome, Non esterified fatty acids, Lipoic acid, Vitamin E

Evidence for a Role of Frataxin in Pancreatic Islets Isolated from Multi-Organ Donors with and Without Type 2 Diabetes Mellitus.

Horm Metab Res. 2012 Mar 7. [Epub ahead of print]

Del Guerra S, D'Aleo V, Gualtierotti G, Pandolfi R, Boggi U, Vistoli F, Barnini S, Filipponi F, Del Prato S, Lupi R.
Department of Endocrinology and Metabolism, Section of Metabolic Diseases and Diabetes, Pisa University Hospital, Pisa, Italy.

Keywords: Frataxin (FXN), iron metabolism, reactive oxygen and/or nitrogen species, pancreatic islets, Type 2 diabetes mellitus, insulin release, glucose stimulation (SI), nitrotyrosine.

Small biotechs raring to cash in on the orphan disease market

Nature Medicine 18, 330–331 (2012), doi:10.1038/nm0312-330

Friedreich’s Ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase

Hum. Mol. Genet. (2012) doi: 10.1093/hmg/dds095 First published online: March 6, 2012

Gregory R. Wagner 1, P. Melanie Pride 2, Clifford M. Babbey 2 and R. Mark Payne1,2

1 Dept. of Medical & Molecular Genetics, 2D ept. of Pediatrics, Riley Heart Research Center, Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202

Keywords: Friedreich’s Ataxia (FRDA), frataxin, lysine acetylation, mitochondrial function, SIRT3 deacetylase, protein hyperacetylation.

Confused by genetic tests? NIH’s new online tool may help

An online tool launched today by the National Institutes of Health will make it easier to navigate the rapidly changing landscape of genetic tests. The free resource, called the Genetic Testing Registry (GTR), is available at http://www.ncbi.nlm.nih.gov/gtr/.

Friedreich ataxia

Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease

Dis. Model. Mech. March 2012, doi: 10.1242/dmm.009019 vol. 5 no. 2 155-164

Tracey A. Rouault
National Institute of Child Health and Human Development, Bethesda, MD

Keywords: Iron-sulfur (Fe-S) clusters, electron transport, respiratory chain complexes, regulatory sensing, photosynthesis, DNA repair, Friedreich’s ataxia (FRDA), ISCU myopathy, sideroblastic anemia, encephalomyopathy, mitochondrial iron overload.

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Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models

Dis. Model. Mech. March 2012, doi: 10.1242/dmm.008706 vol. 5 no. 2 165-176

Alain Martelli 1,2,3,4,5, Marek Napierala 6 and Hélène Puccio 1,2,3,4,5,*
1 Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404, Illkirch, France
2 Inserm, U596, 67400, Illkirch, France
3 CNRS, UMR7104, 67400, Illkirch, France
4 Université de Strasbourg, 67000, Strasbourg, France
5 Collège de France, Chaire de génétique humaine, 67400, Illkirch, France
6 The Department of Molecular Carcinogenesis, Center for Cancer Epigenetics, University of Texas MD Anderson Cancer Center Science Park, Smithville, TX, USA

Keywords: Friedreich’s ataxia (FRDA), frataxin (FXN), GAA.

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Cardiomyopathy in Friedreich's Ataxia: Exemplifying the Challenges Faced by the Cardiologists in the Management of Rare Diseases

CIRCULATIONAHA.112.095364 Published online before print February 29, 2012, doi: 10.1161/​CIRCULATIONAHA.112.095364

Morten Kvistholm Jensen; Henning Bundgaard
The Heart Centre, Rigshospitalet, Copenenhagen, Denmark

Keywords: Friedreich's ataxia (FA), cardiomyopathy, left ventricular hypertrophy (FA-CM), antioxidants, Idebenone, MICONOS study group.

Cardiomyopathy of Friedreich's Ataxia (FRDA).

Ir J Med Sci. 2012 Feb 29. [Epub ahead of print]

Payne RM, Peverill RE.
Indiana University School of Medicine, 1044 W Walnut, R4-302, Indianapolis, IN, 46202, USA, rpayne@iupui.edu.

No abstract available