North and South Indian Populations Share a Common Ancestral Origin of Friedreich's Ataxia but Vary in Age of GAA Repeat Expansion

Annals of Human Genetics, Early View (Articles online in advance of print)
Published Online: 31 Mar 2010

Inder Singh 1# , Mohammed Faruq 1,2# , Odity Mukherjee 3 , Sanjeev Jain 4 , Pramod Kumar Pal 4 , M. V. Padma Srivastav 1 , Madhuri Behari 1 , Achal K. Srivastava 1 and Mitali Mukerji 2*
1 Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India 2 Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, (IGIB) CSIR, Mall Road, New Delhi, India 3 National Centre for Biological Sciences, Bangalore, India 4 National Institute of Mental Health and Neuro Sciences, Bangalore, India

KEYWORDS: Age of mutation • CS2 • founder haplotype • FAD1 • FRDA • FR6 • FRDA India • GAA repeats • ITR3

La Ataxia de Friedreich, del pasado a la actualidad.- Friedreich Ataxia, from the past up to now

Holguín Ciencias. Año XV, No 4; Mes Diciembre 2009. ISSN 1027-2127

 1. Dra. Tania Cruz Mariño. Profesor Asistente. taniacmarin@infomed.sld.cu. Centro Municipal de Genética de Holguín. Calle Coliseo Esquina Mártires. Holguín. Cuba.
2. Lic. José Luis Guisao Martínez. Profesor Instructor. Agencia de Viajes Gaviotatours. Guardalavaca. Holguín.
3. Lic. Yanetza González Zaldivar. Investigador Agregado. yanetzag@ataxia.hlg.sld.cu

PALABRAS CLAVES: ATAXIA DE FRIEDREICH, ATAXIAS HEREDITARIAS, GEN FRDA

Computer Game Operated By Eye Movements Could Allow People With Severe Physical Disabilities To Become 'Gamers' For The First Time

The technology behind it could be adapted to create more sophisticated games and applications such as wheelchairs and computer cursors controlled by eye movements.

One of the major benefits of the new technology is that it is inexpensive, using off-the-shelf hardware and costing approximately £25 to make. 

Multifunctional Nanocarriers for diagnostics, drug delivery and targeted treatment across blood-brain barrier: perspectives on tracking and neuroimaging

Particle and Fibre Toxicology 2010, 7:3doi:10.1186/1743-8977-7-3

OPEN ACCES

Sonu Bhaskar , Furong Tian , Tobias Stoeger , Wolfgang Kreyling , Jesus M de la Fuente , Valeria Grazu , Paul Borm , Giovani Estrada , Vasilis Ntziachristos  and Daniel Razansky 

Abstract (provisional)

Nanotechnology has brought a variety of new possibilities into biological discovery and clinical practice. In particular, nano-scaled carriers have revolutionalized drug delivery, allowing for therapeutic agents to be selectively targeted on an organ, tissue and cell specific level, also minimizing exposure of healthy tissue to drugs. In this review we discuss and analyze three issues, which are considered to be at the core of nano-scaled drug delivery systems, namely functionalization of nanocarriers, delivery to target organs and in vivo imaging. The latest developments on highly specific conjugation strategies that are used to attach biomolecules to the surface of nanoparticles (NP) are reviewed. Besides drug carrying capabilities, the functionalization of nanocarriers also facilitate their transport to primary target organs. We highlight the leading advantage of nanocarriers, i.e. their ability to cross the blood-brain barrier (BBB), a tightly packed layer of endothelial cells surrounding the brain that prevents high-molecular weight molecules from entering the brain. The BBB has several transport molecules such as growth factors, insulin and transferrin that can potentially increase the efficiency and kinetics of brain-targeting nanocarriers. Potential treatments for common neurological disorders, such as stroke, tumours and Alzheimer, are therefore a much sought-after application of nanomedicine. Likewise any other drug delivery system, a number of parameters need to be registered once functionalised NPs are administered, for instance their efficiency in organ-selective targeting, bioaccumulation and excretion. Finally, direct in vivo imaging of nanomaterials is an exciting recent field that can provide real-time tracking of those nanocarriers. We review a range of systems suitable for in vivo imaging and monitoring of drug delivery, with an emphasis on most recently introduced molecular imaging modalities based on optical and hybrid contrast, such as fluorescent protein tomography and multispectral optoacoustic tomography. Overall, great potential is foreseen for nanocarriers in medical diagnostics, therapeutics and molecular targeting. A proposed roadmap for ongoing and future research directions is therefore discussed in detail with emphasis on the development of novel approaches for functionalization, targeting and imaging of nano-based drug delivery systems. Nanocarriers are a cutting-edge technology poised to change the ways medicine is administered.

FULL TEXT (PDF)

Pathology and pathogenesis of sensory neuropathy in Friedreich’s ataxia

Acta Neuropathologica, DOI 10.1007/s00401-010-0675-0.
 Published online: 26 March 2010

Jennifer A. Morral¹, Ashley N. Davis¹, Jiang Qian², Benjamin B. Gelman³ and Arnulf H. Koeppen^{1, 2, 4} 

(1)	Research Service (151), VA Medical Center, 113 Holland Ave, Albany, NY 12208, USA

(2)	Department of Pathology and Laboratory Medicine, Albany Medical College, Albany, NY 12208, USA

(3)	Department of Pathology and Laboratory Medicine, University of Texas Medical Branch, Galveston, TX 77555, USA

(4)

Department of Neurology, Albany Medical College, Albany, NY 12208, USA

Keywords  Axons, Friedreich’s ataxia, Laminin,  Myelin sheath,  Neural crest ,  S100 protein,  Schwann cells, Sural nerve.

FULL TEXT PDF

Friedreich ataxia presenting as sudden cardiac death in childhood: Clinical, genetic and pathological correlation, with implications for genetic testing and counselling

Neuromuscular Disorders
Article in Press, Corrected Proof,  doi:10.1016/j.nmd.2010.02.019

Nada Quercia^a, Gino R. Somers^b, William Halliday^b, Paul F. Kantor^c, Brenda Banwell^d and Grace Yoon^{a, d,}

^a Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Canada
^b Department of Paediatric Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto, Canada
^c Department of Paediatrics, Division of Cardiology, Hospital for Sick Children, Canada
^d Department of Paediatrics, Division of Neurology, Hospital for Sick Children, University of Toronto, Toronto, Canada

Received 5 November 2009; 

revised 22 January 2010; 

accepted 23 February 2010. 

Available online 24 March 2010. 

 

Keywords: Friedreich ataxia; Cardiomyopathy; Frataxin; Sudden death

New Period of Brain 'Plasticity' Created With Transplanted Embryonic Cells

ScienceDaily (Mar. 25, 2010) — UCSF scientists report that they were able to prompt a new period of "plasticity," or capacity for change, in the neural circuitry of the visual cortex of juvenile mice. The approach, they say, might some day be used to create new periods of plasticity in the human brain that would allow for the repair of neural circuits following injury or disease.

"It will be important to determine whether transplantation is equally effective in older animals."

Lucina: Lucina

Arch Dis Child 2010;95:316 doi:10.1136/adc.2009.187534 
 

...conditions (autosomal recessive cerebellar ataxias) that includes Friedreich's ataxia. The onset is usually in adolescence and the clinical...difficult) should be restricted to patients with ataxia, but not Friedreich's ataxia or ataxia- telangiectasia, and with a serum AFP concentration...

Echocardiography in patients with hypertrophic cardiomyopathy: usefulness of old and new techniques in the diagnosis and pathophysiological assessment

Cardiovascular Ultrasound 2010, 8:7doi:10.1186/1476-7120-8-7
 OPEN ACCESS

Maria-Angela Losi , Stefano Nistri , Maurizio Galderisi , Sandro Betocchi , Franco Cecchi , Iacopo Olivotto , Eustachio Agricola , Piercarlo Ballo , Simona Buralli , Antonello D'Andrea , Arcangelo D'Errico , Donato Mele , Susanna Sciomer , Sergio Mondillo  and Working Group of Echocardiography of the Italian Society of Cardiology

Abstract (provisional)

Hypertrophic cardiomyopathy (HCM) is one of the most common inherited cardiomyopathy. The identification of patients with HCM is sometimes still a challenge. Moreover, the pathophysiology of HCM is complex because of left ventricular hyper-contractile state, diastolic dysfunction, ischemia and obstruction which often are coexistent in the same patient. In this review, we discuss the current and emerging echocardiographic methodology that can help physicians in the correct diagnostic and pathophysiological assessment of patients with HCM.

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Evidence that yeast frataxin is not an iron storage protein In Vivo

Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseaseArticle in Press, Accepted Manuscript, doi:10.1016/j.bbadis.2010.03.008

Alexandra Seguin^{a, 1}, Robert Sutak^{a, 1}, Anne-Laure-Bulteau^b, Richard Garcia-Serres^c, Jean-Louis Oddou^c, Sophie Lefevre^a, Renata Santos^a, Andrew Dancis^d, Jean-Michel Camadro^a, Jean-Marc Latour^{c, 2} and Emmanuel Lesuisse^{a, 2, ,}

^a Laboratoire Mitochondries, Métaux et Stress oxydant, Institut Jacques Monod, CNRS-Université Paris Diderot, France.
^b Laboratoire de Biologie et Biochimie Cellulaire du Vieillissement, Université Paris 7, Paris, France.
^c CEA, iRTSV, LCBM, 38054 Grenoble Cedex 9, France; CNRS, UMR5249, Grenoble, France; Université Joseph Fourier, 38054 Grenoble Cedex 9, France
^d University of Pennsylvania, Department of Medicine, Division of Hematology/Oncology, BRBII Room 731, 431 Curie Blvd, Philadelphia PA 19104, USA

Received 10 October 2009; 

revised 14 March 2010; 

accepted 16 March 2010. 

Available online 20 March 2010.

Keyword:  Yeast frataxin; iron; oxidative stress; yfh1; ggc1; Mössbauer; mitochondria 

Polyunsaturated fatty acids, neuroinflammation and well being

Prostaglandins, Leukotrienes and Essential Fatty Acids - 15 March 2010 (10.1016/j.plefa.2010.02.006)

Sophie Layé
Psychoneuroimmunology, Nutrition and Genetic (PsyNuGen), UMR INRA 1286, CNRS 5226, University Bordeaux 2, 146 rue Léo Saignat, 33077 Bordeaux, France

Keygen: diet, microglial cells, astrocytes, inflammatory cytokines, neuroinflammation, polyunsaturated fatty acids (PUFA), n-3 fatty acids, n-6 fatty acids,  prostaglandins, protective role of n-3 fatty acids in neurodegenerative diseases linked to aging.  

Riluzole improves symptoms of cerebellar ataxia

Movement Disorder Virtual University, Date: 3/19/2010

Keywords: Riluzole, cerebellar ataxia, placebo-controlled study,  ALS, hereditary ataxias, MSA-C, FXTAS, Friedreich’s ataxia, ICARS, static function, kinetic function, dysarthria, oculomotor function.

Source:

Riluzole in cerebellar ataxia: A randomized, double-blind, placebo-controlled pilot trial.

Neurology. 2010 Mar 9;74(10):839-45.

Ristori G, Romano S, Visconti A, Cannoni S, Spadaro M, Frontali M, Pontieri FE, Vanacore N, Salvetti M.

Center for Experimental Neurological Therapies, S. Andrea Hospital, II Faculty of Medicine, "Sapienza" University of Rome, Via di Grottarossa 1035-1039, 00189, Rome, Italy giovanni.ristori@uniroma1.it.

Clinical Trial:

Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia

 

 First Received: September 12, 2005   Last Updated: August 6, 2008

Educational Guidelines for children with Friedreich’s Ataxia

Website and Blog for the Sam McMahon Trust

To download the guide here.

Iron binding activity of human iron-sulfur cluster assembly protein hIscA-1

Biochem. J. (2010) Immediate Publication, doi:10.1042/BJ20100122

Jianxin Lu, Jacob P. Bitoun, Guoqiang Tan, Wu Wang, Wenguang Min and Huangen Ding
Biological Sciences, Louisiana State University, Baton Rouge, LA 70803, U.S.A.. hding@lsu.edu

Full text pdf

Keywords: Iron-sulfur cluster biogenesis; human IscA homologue; intracellular iron content, frataxin, Friedreich's ataxia.

Baja predisposición a la inestabilidad del gen de la Ataxia de Friedreich en la población cubana.

Revista Científica de las Ciencias Médicas en Cienfuegos, Vol 8, No 1 (2010).

Resúmenes de los trabajos sobre la atrofia espinocerebelosa
Congreso Nacional de Neurología,1

Baja predisposición a la inestabilidad del gen de la Ataxia de Friedreich en la población cubana.

Dra. Tania Cruz Mariño, Dra. Yanetza González Zaldívar, Dr. José M Laffita Mesa, Dr. Raúl Aguilera Rodríguez, y Dr. Luis Velázquez Pérez.
Centro para la Investigación y la Rehabilitación de las Ataxias Hereditarias. Holguín.

Introducción. Cuba es un archipiélago caribeño cuya población se conformó por criollos descendientes de españoles mezclados con africanos sub-saharianos, chinos, judíos europeos y amerindios en un menor grado. Las ataxias recesivas representan el 9.16% de las ataxias hereditarias en el país; la ataxia de Friedreich es considerada mundialmente como la más común dentro de este grupo. Objetivos. Estimar la prevalencia de la ataxia de Friedreich en Cuba y describir las características tanto de la enfermedad en los individuos afectados como del gen en la población normal. Método. Se realizó estudio molecular mediante Reacción en Cadena de la Polimerasa a 87 individuos afectados por ataxias recesivas o esporádicas. Resultados. Cinco pacientes del occidente de la isla mostraron expansiones en el locus FRDA, estimándose una prevalencia de 1 in 2200000 con una frecuencia de portador de 1 in 745. El estudio de 496 cromosomas normales mostró curtosis y asimetría positiva, el gen tiene una distribución normal con 19 alelos que presentan de 5 a 31 repeticiones de GAA, siendo el de 8 repeticiones el más común. La frecuencia de alelos normales cortos y largos fue de 89,11% y 10,89% respectivamente, no identificándose alelos permutados o expandidos. Europa, en particular España, es una fuente candidata para la inclusión del gen en el heterogéneo fondo genético cubano. Conclusiones. Estos datos sugieren una baja predisposición de la repetición a la inestabilidad y explican la baja prevalencia de la condición. El diagnóstico molecular de la ataxia de Friedreich en familias cubanas es presentado por primera vez.

Antioxidantes y otros tratamientos farmacológicos para la ataxia de Friedreich

Mary Kearney, Richard W Orrell, Michael Fahey, Massimo Pandolfo. Antioxidantes y otros tratamientos farmacológicos para la ataxia de Friedreich (Revision Cochrane traducida). En: Biblioteca Cochrane Plus 2009 Número 4. Oxford: Update Software Ltd.(Traducida de The Cochrane Library, 2009 Issue 4 Art no. CD007791. Chichester, UK: John Wiley & Sons, Ltd.).

HSV-1-derived helper-independent defective vectors, replicating vectors and amplicon vectors, for the treatment of brain diseases

Current Opinion in Drug Discovery & Development 2010, 13:169-183 (3 March 2010)
Marconi P, Manservigi R, Epstein AL

Not abstract avalaible

Opposing effects of dietary sugar and saturated fat on cardiovascular risk factors and glucose metabolism in mitochondrially impaired mice

European Journal of Nutrition, Springer Berlin / Heidelberg, 10.1007/s00394-010-0100-4, Published online: 10 March 2010

Doreen Kuhlow1, 2, Kim Zarse1, Anja Voigt2, Tim J. Schulz1, 2, 6, Klaus J. Petzke3, Lutz Schomburg4, Andreas F. H. Pfeiffer2, 5 and Michael Ristow1, 2 Contact Information
(1)Department of Human Nutrition, Institute of Nutrition, University of Jena, 07743 Jena, Germany
(2)Department of Clinical Nutrition, German Institute of Human Nutrition Potsdam-Rehbrücke, 14558 Nuthetal, Germany
(3)Stable Isotope Group, German Institute of Human Nutrition Potsdam-Rehbrücke, 14558 Nuthetal, Germany
(4)Institute of Experimental Endocrinology, Charité University Medicine, 13353 CVK, Berlin, Germany
(5)Department of Endocrinology, Diabetes and Nutrition, Charité University Medicine, 12203 CBF, Berlin, Germany
(6)Present address: Research Section Obesity and Hormone Research, Joslin Diabetes Center, Harvard Medical School, Boston, MA 02215, USA

Keyworsd:dietary fat, dietary sucrose, risk for body mass gain, diabetes mellitus, cardiovascular disease, mitochondrial frataxin protein, hyperinsulinemia, insulin, HMG-CoA reductase, ACAA2,

A Magical Way to Move Kids: Researcher Uses Magic Tricks to Treat Children With Locomotor Disabilities

ScienceDaily (Mar. 15, 2010) — It's often hard to motivate youngsters with physical disabilities. But a new approach from a Tel Aviv University researcher bridges the worlds of behavior and science to help kids with paralysis and motor dysfunction improve their physical skills and inner confidence -- using a trick up her sleeve called "magic."

Does oxidative stress contribute to the pathology of Friedreich's ataxia? A radical question.

FASEB J. 2010 Mar 10.

Armstrong JS, Khdour O, Hecht SM.
Center for BioEnergetics, Biodesign Institute, Arizona State University, Tempe, Arizona, USA.

Keywords: Friedreich's ataxia (FRDA, neurodegenerative disease, frataxin, mitochondrial iron accumulation, Fenton-mediated free radical production, reactive oxygen species (ROS), specific small molecule multifunctional antioxidants.

Prevalence of interatrial block in patients with Friedreich's Ataxia

Articles in Press: International Journal of Cardiology, Received 26 January 2010; accepted 14 February 2010. published online 08 March 2010.

Marios Panasb1, Elias GialafosaCorresponding Author Information1email address, Kostas Spengosb, Theodore G. Papaioannoua, Konstantina Aggelia, Athina Kladib, Gerasimos Siasosa, John Gialafosa, Dimitrios Vassilopoulosb, Christodoulos Stefanadisa

a First Dept. of Cardiology, Hippokration Hospital, Medical School, National & Kapodistrian University of Athens, Greece

b First Dept. of Neurology, Medical School, National & Kapodistrian University of Athens, Greece

Keywords: Interatrial block, Friedreich's Ataxia, P-wave duration, atrial arrhythmias

Rare opportunities appear on the horizon to treat rare diseases

Nature Medicine 16, 241 (2010), doi:10.1038/nm0310-241

Christian Torres, New York