Projets de traitement des maladies d’Alzheimer et de Friedreich

Very encouraging news, Dr. Patrick Aubourg, will work with FA, this Dr. has already succeeded in stopping the evolution of Adrenoleukodystrophy(ALD), also called "Siemerling-Creutzfeldt Disease in some children, with autologous trasplant of bone marrow stem cells, with cells corrected by gene therapy

Patrick Aubourg,  Docteur en médecine et Professeur à l’Université Paris-Descartes. Il dirige l'Unité Inserm Génétique et biothérapies des maladies dégénératives et prolifératives du système nerveux, à l’Hôpital Saint-Vincent de Paul.

Le Grand Prix scientifique 2010 de la Fondation Simone et Cino del Duca a été attribué au Professeur Patrick Aubourg.

Dans l’ataxie de Friedreich, l’objectif est d’introduire le gène fonctionnel de la frataxine, une protéine essentielle au fonctionnement du cervelet, localisée dans des organites cellulaires précis : les mitochondries. Le manque de frataxine dans ces organites entraîne la perturbation d'une structure indispensable à leur bon fonctionnement, et tardivement une accumulation de fer. L’équipe de Patrick Aubourg teste deux nouveaux vecteurs viraux de thérapie génique pour déterminer lequel, après injection intra-veineuse, a la plus grande efficacité pour faire exprimer la frataxine non seulement dans les cellules du cervelet, mais aussi dans le cœur et la moelle épinière.

PRESS RELEASE IN ENGLISH 

More information about ADL Treatment:

Successful treatment of adrenoleukodystrophy by transplantation of ..

2 Children Suffering From Adrenoleukodystrophy Saved Thanks To The ELA Association

Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy
Science 6 November 2009: Vol. 326. no. 5954, pp. 818 - 823, DOI: 10.1126/science.1171242

Astrocyte-Specific Overexpression of Nrf2 Protects Striatal Neurons from Mitochondrial Complex II Inhibition

Toxicol Sci. 2010 Jun;115(2):557-68. Epub 2010 Mar 8.

Calkins MJ, Vargas MR, Johnson DA, Johnson JA.

Molecular and Environmental Toxicology Center, University of Wisconsin, Madison, Wisconsin 53705, USA.

Variations of frataxin protein levels in normal individuals.

Neurol Sci. 2010 May 27.

Boehm T, Scheiber-Mojdehkar B, Kluge B, Goldenberg H, Laccone F, Sturm B.

Department of Medical Chemistry, Medical University of Vienna, Waehringerstr. 10, 1090, Vienna, Austria.

Keywords: Friedreich's ataxia (FRDA),  frataxin (FXN),  50 healthy Austrian people,  lymphocytes from blood, ELISA.

Graves' disease in a patient with Friedreich's ataxia and diabetes mellitus.

Curr Opin Pediatr. 2010 May 21. [Epub ahead of print]

Schweiger B, Klingensmith GJ, Wadwa RP.

aThe Children's Hospital, USA bBarbara Davis Center for Childhood Diabetes, University of Colorado Denver, Aurora, Colorado, USA.

Assessment of Brain White Matter Fiber Bundle Atrophy in Patients with Friedreich Ataxia

Radiology, 255, 882-889. June 2010, doi: 10.1148/radiol.10091742
  
Elisabetta Pagani, MPhil, Andrea Ginestroni, MD,Riccardo Della Nave, MD, PhD,Federica Agosta, MD,Fabrizio Salvi, MD,Giuseppe De Michele, MD,Silvia Piacentini, MD,Massimo Filippi, MD and Mario Mascalchi, MD, PhD

Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol.

Proc Natl Acad Sci U S A. 2010 May 21.

Richardson DR, Lane DJ, Becker EM, Huang ML, Whitnall M, Rahmanto YS, Sheftel AD, Ponka P.

Iron Metabolism and Chelation Program, Discipline of Pathology, University of Sydney, NSW 2006, Australia.

Repligen Receives Orphan Drug Designation from the FDA for RG2833 for Friedreich's Ataxia

WALTHAM, Mass., May 24 /PRNewswire-FirstCall/ -- Repligen Corporation (Nasdaq: RGEN) announced today that the Office of Orphan Products Development of the Food and Drug Administration (FDA) has granted orphan drug designation to RG2833, a selective histone deacetylase 3 (HDAC-3) inhibitor for the treatment of Friedreich's ataxia.  Orphan drug designation qualifies Repligen to receive seven years of marketing exclusivity in the United States if the company is the first to obtain marketing approval for RG2833 for the treatment of Friedreich's ataxia.  This designation may also qualify Repligen to benefit from certain tax credits and a waiver of the company's obligation to pay the FDA application user fees for this product as required by the Prescription Drug User Fee Act. The U.S. Orphan Drug Act provides incentives for companies developing and marketing therapies for rare diseases, defined as those affecting fewer than 200,000 Americans.  There are approximately 15,000 people worldwide.......Read more

Iron Regulatory Proteins: From Molecular Mechanisms to Drug Development

Antioxidants & Redox Signaling. -Not available-, ahead of print. doi:10.1089/ars.2009.2983.

Stefania Recalcati,¹ Giorgio Minotti,² and Gaetano Cairo¹

¹Department of Human Morphology and Biomedical Sciences Città Studi, University of Milan, Milano, Italy.

²CIR and Drug Sciences, University Campus Bio-Medico and Fondazione Alberto Sordi-Research Institute on Aging, Roma, Italy.

Intracellular Redox Compartments: Mechanisms and Significances

Antioxidants & Redox Signaling. Ahead of print. doi:10.1089/ars.2009.3001.
Online Ahead of Print: May 17, 2010

Thomas Kietzmann

Department Chemistry/Biochemistry, University of Kaiserslautern, Kaiserslautern, Germany, and Department of Biochemistry, University of Oulu, Oulu, Finland.

Keywords:  reactive oxygen species (ROS),   act as signalling molecules,   hormones, growth factors, mechanical or chemical stress, mechanism of intracellular communication.

Human iron-sulfur cluster assembly, cellular iron homeostasis and disease.

Biochemistry. 2010 May 18. [Epub ahead of print]

Ye H, Rouault TA.

 Keyword: Iron sulfur (Fe-S) proteins, iron atoms, sulfur ligands, redox activity, enzymatic function, aconitase, succinate dehydrogenase, cellular iron homeostasis,  frataxin, GLRX5, ISCU, ABCB7, Friedreich's ataxia.

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