http://health.groups.yahoo.com/group/FA_babelFAmily/message/485 (FRA)

http://health.groups.yahoo.com/group/FA_babelFAmily/message/486 (ITA)

http://health.groups.yahoo.com/group/FA_babelFAmily/message/488 (ESP)

http://www.worldlingo.com/en/products_services/worldlingo_translator.html 

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----- Original Message -----

From: "Gwénaël Martin"

To: <afaf@...>

Sent: Sunday, September 30, 2007 5:47 PM

Subject: [afaf] " Brèves sportives", Tribune de Genève, 19 septembre

Un joli chèque pour 100 tours du lac

CYCLISME - Les dix valeureux cyclistes genevois qui ont réussi en mai le pari d'aligner cent tours du lac Léman en vingt-cinq jours n'ont pas signé un exploit vain. L'élan de solidarité qu'ils ont suscité a permis de récolter 35.000 francs de dons, une somme remise à l'Association pour l'Ataxie de Friedreich et destinée à mieux lutter contre cette grave maladie.

http://www.tdg.ch/pages/home/tribune_de_geneve/l_actu/sports/detail_sports/(contenu)/133834

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Un bell'assegno per i cento giri del lago.

CICLISMO - La prodezza di dieci valorosi ciclisti ginevrini che lo scorso maggio hanno vinto la sfida di percorrere in staffetta cento giri del lago Leman in venticinque giorni non si è rivelata vana. Il loro gesto di solidarietà ha permesso di raccogliere 35.000 franchi svizzeri (21.062,06 € - 29.979,87 US $) a favore dell'associazione (svizzera ACHAF, ndt) per l'Atassia di Friedreich,  destinati alla lotta contro questa grave malattia.  

http://www.tdg.ch/pages/home/tribune_de_geneve/l_actu/sports/detail_sports/(contenu)/133834

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Un bonito cheque por las cien vueltas al lago

CICLISMO – La proeza de diez valientes ciclistas de Ginebra que consiguieron en mayo  hacer el recorrido de las cien vueltas al lago Léman en 25 días no ha sido en vano. Su gesto de solidaridad ha permitido recaudar 35.000 Francos Suizos (21.062,06 € - 29.979,87 US $, ndt) a favor de la asociación (suiza ACHAF, ndt ) para la Ataxia de Friedreich y destinados a la lucha contra esta grave enfermedad.

http://www.tdg.ch/pages/home/tribune_de_geneve/l_actu/sports/detail_sports/(contenu)/133834

http://health.groups.yahoo.com/group/FA_babelFAmily/message/1047 (ENG)

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http://www.medicalnewstoday.com/articles/83571.php

Traducción: Claudia Parada

Científicos marcan el Hierro "Neurodegenerativo" en el Sincrotrón Europeo

Fecha del artículo: 26 Sep 2007 - 18:00 PDT

Los científicos sospechan que la acumulación del hierro juega un papel en los procesos neurodegenerativos tales coma la enfermedad del Parkinson, pero su distribución en las neuronas nunca ha sido observada debido a la carencia de técnicas para hacerlo. Hasta hoy.

Investigadores del CNRS en la Universidad de Bordeaux (Francia), Universidad de Sevilla (España), el Instituto INSERM de Neurociencias de Grenoble (Francia) y ESRF han estudiado la distribución del hierro en un modelo in vitro de células neuronales que producen la dopamina.

La dopamina es un neurotransmisor, un mensajero químico entre las células nerviosas en el cerebro de mamíferos. Porque la dopamina puede formar complejos estables con el hierro, Richard Ortega, del grupo de imagen de la química celular en Bordeaux, creyó que la dopamina podía ejercer un efecto protector regulando el hierro en neuronas dopaminérgenicas y que este sistema podría ser defectuoso en la enfermedad del Parkinson.  

Para probar esta hipótesis, el equipo utilizó la nueva estación experimental de proyecciones de imagen de nanoprueba recientemente desarrollada en el Sincroton Europeo para estudiar la distribución de los elementos en las células. La resolución de 90 nm permitió a los científicos visualizar la distribución de los elementos en las vesículas neurotransmisoras. La nanoprueba consiste en excitar la muestra con un rayo de Rayos-X fuertemente enfocado y recoger la señal fluorescente característica que se re-emitió. Esto permite mostrar los diversos elementos rastreados en un punto, y después la muestra es escaneada punto por punto para formar una imagen completa  multi-elemento de las células.

El equipo demostró que el hierro es almacenado dentro de vesículas de dopamina en el interior de las células neuronales. Esta es la primera evidencia de la co-localización del complejo hierro-dopamina en neuro-vesiculas. Los resultaddos también explican que cuando la producción de dopamina es obstruida, el hierro en las vesículas disminuye drásticamente. Esta nueva función de las vesículas de dopamina en el almacenamiento de hierro es de importancia crítica para entender el mecanismo molecular involucrado en la enfermedad del Parkinson. En este desorden neurológico, el almacenaje vesicular de dopamina se ha encontrado dañado. De acuerdo a estos resultados, esto incrementaría los niveles de complejos hierro-dopamina altamente tóxicos en las neuronas. Los resultados son publicados en PLoS ONE el 26 de Septiembre.

La estación de nano proyecciones de imagen del Sincrotrón ofrece una nueva herramienta para los investigadores involucrados no sólo en el estudio de enfermedades neurodegenerativas sino también en muchos otros campos donde la determinación de la distribución de los iones metálicos a nivel subcelular es importante tales como: toxicología del metal, carcinogenesis química, y farmacología celular de los compuestos inorgánicos. Esta es una de las razones porque  el equipo decidió exhibir sus resultados en un periódico de libre acceso tal como PLoS ONE: " Nosotros queremos que las diferentes comunidades científicas conozcan que esta maquina está disponible, y la mejor forma es dejándoles tener acceso a los resultados", explicó Peter Cloetens, a cargo de la estación en ESRF.

Citation: Ortega R, Cloetens P, Deve`s G, Carmona A, Bohic S (2007) Almacenaje de Hierro dentro de Neurovesículas de Dopamina Revelado por Nano Proyecciones Químicas. PLoS ONE 2(9): e925. doi:10.1371/journal.pone.0000925
Please click here

PLoS UNO es el primer diario de  investigación primaria de todas las áreas de la ciencia que  emplea la revisión por pares en  pre y post publicación  para maximizar  el impacto de cada reporte publicado.  PLoS UNO es publicado por la biblioteca pública de la ciencia (PLoS), una  publicación abierta cuyo objetivo es hacer que la literatura   científica y médica  sea de difusión  pública.


PLoS ONE

Public Library of Science
185 Berry Street, Suite 3100
San Francisco, CA 94107
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Published: 07:00 28.09.2007 GMT+2 /HUGIN /Source: Santhera Pharmaceuticals Holding AG /SWX: SANN /ISIN: CH0027148649

http://www.santhera.com/index.php?docid=212&vid=&lang=en&newsdate=200709&newsid=1156603&newslang=en

September 28, 2007: Santhera Announces Start of US Phase III Clinical Trial with SNT-MC17 in Friedreich's Ataxia and Provides Details on Study Design

• News release US Phase III

Initiation of a six month study with 51 FRDA patients and ICARS as primary endpoint expected shortly.

Fast-track designation granted by FDA.

Santhera Pharmaceuticals (SWX:SANN), a Swiss specialty pharmaceutical company focused on neuromuscular diseases, announced today that it has reached an agreement with the US Food and Drug Administration (FDA) under the Special Protocol Assessment (SPA) procedure relating to the Phase III clinical trial to evaluate SNT-MC17 (INN: idebenone) for the treatment of Friedreich's Ataxia (FRDA). The protocol incorporates advice provided by the FDA on the design of the study, its endpoints, statistical analysis and conduct. The FDA granted a fast track designation to Santhera's compound in FRDA.

The positive clinical results from a recently reported study conducted in collaboration with the US National Institutes of Health (NIH) formed the basis for the design of the phase III trial. The trial with SNT-MC17, named IONIA (Idebenone effects On Neurological ICARS Assessments), is a double-blind, randomized, placebo-controlled study of six months duration investigating the efficacy of two doses of SNT-MC17 compared to placebo. The primary endpoint of IONIA will be a neurological endpoint, measured by the International Cooperative Ataxia Rating Scale (ICARS), comparing the change in the ICARS for each of the treatment groups with placebo over the 24 week study period. The study will also investigate additional neurological endpoints as well as activities of daily living parameters and cardiac measures.

Based on the efficacy data obtained in the NIH study, particularly for the neurological outcome measures, Santhera's first dose group in the IONIA trial will be 450 mg/day for patients below 45 kg body weight and a corresponding dose of 900 mg/day for patients above 45 kg body weight. The second dose group will be 1350 mg/day for patients below 45 kg of body weight and 2250 mg/day for patients above 45 kg. Using Santhera's 150 mg tablet, the daily dose of SNT-MC17 will be divided into three equal doses to be taken with a meal.

The IONIA study will recruit a minimum of 51 ambulatory FRDA patients between the ages of 8 and 17 years and will be conducted at two clinical centers in the US - the Children's Hospital of Philadelphia and the School of Medicine of the University of California, Los Angeles. Patient recruitment is expected to start soon. Santhera has committed to an open label extension study of 12 months duration offering FRDA patients who have enrolled and completed the IONIA trial, the continuation of treatment with SNT-MC17 at the 1350/2250 mg/day dose level. The purpose of this extension study is to generate additional safety and tolerability data on SNT-MC17 in longer use.

In response to FDA's advice under the SPA, Santhera has, to the extent possible, incorporated the Agency's recommendations into the design of the protocol for this pivotal clinical trial. Discussion points with the FDA have been the size of the study and the safety data base regarding the high dose at the time of filing for a new drug application (NDA). Santhera acknowledges both aspects as they are resulting primarily from the orphan nature of the disease.

Furthermore, the FDA granted a fast-track designation for the compound in FRDA that allows a rolling submission of the NDA enabling the Agency to review the product's NDA with a higher priority in a potentially shorter review time. The compound earlier received orphan drug designation for the indication FRDA in the US, allowing for a market exclusivity of 7 years after marketing approval.

Klaus Schollmeier, Santhera's CEO commenting on today's announcement said: "I am pleased that we could finalize the protocol for the pivotal trial in the US. With the offering of an extension study and FDA's fast-track designation granted, we now believe that we can successfully complete the development of SNT-MC17 for FRDA in the US during the course of 2009. SNT-MC17 has a good chance to become the first pharmaceutical product approved in the US for this devastating disease."

"We are excited that Santhera is announcing today the commencement of the first Phase III clinical trial in FRDA in the US", said Ronald J. Bartek, President of the Friedreich Ataxia Research Alliance (FARA). "SNT-MC17/idebenone has shown clinical promise in previous trials and FARA is committed to actively support Santhera in the timely enrollment of patients for this pivotal trial, as every day counts in advancing this effort to achieve treatment for FRDA."

Santhera has applied for marketing authorization of SNT-MC17 for the treatment of FRDA in the EU and will submit shortly the marketing application in Canada. Market approval in both territories is expected for the second half of 2008. The Company has partnered the marketing rights for SNT-MC17 in FRDA in the EU and Switzerland to Takeda and intends to market the product in the US and Canada via its own specialty sales force.

About Friedreich's Ataxia (FRDA)

Friedreich's Ataxia (FRDA) is a rare but severe genetic neuromuscular disorder that results in the degeneration of an individual's nerve and muscle tissue. This disorder causes loss of muscle control, uncoordinated movements, muscle wasting and thickening of heart walls which frequently leads to a shortened life span. FRDA affects both Caucasian males and females equally and it is estimated that about 20,000 patients suffer from the disease in both North America and Europe. Average life expectancy for FRDA patients is limited to approximately 35 to 50 years.

The disorder results from a genetic defect in the gene encoding for frataxin. Reduced levels of this protein ultimately result in impaired energy production in mitochondria, the cells' energy production centers, and elevated oxidative stress. Tissues that have the highest need for energy, in particular nerve and cardiac tissues, are primarily affected by frataxin deficiency resulting in pathological changes in heart muscle anatomy and function and loss of nerve cells. SNT-MC17 is believed to improve the balance and flow of electrons within the mitochondria, therefore increasing the energy production within nerve and muscle cells of FRDA patients, protecting these cells from cell death. A number of clinical trials have provided strong evidence that SNT-MC17 may offer an effective treatment option for FRDA associated heart wall thickening (cardiomyopathy). In addition, data from the collaborative NIH clinical trial suggest positive effects on neurological function.

Background on International Cooperative Ataxia Rating Scale (ICARS)

ICARS consists of a one-hundred-point semi-quantitative scale based upon 19 simple neurological testing maneuvers compartmentalized into postural and stance, limb ataxia, speech, and oculomotor components and has been previously applied to this patient population in clinical studies.

* * *

About Santhera

Santhera Pharmaceuticals (SWX: SANN) is a Swiss specialty pharmaceutical company focused on the discovery, development and marketing of small-molecule pharmaceutical products for the treatment of severe neuromuscular diseases. Santhera's vision is to become a leading specialty pharmaceutical company offering therapies for a number of indications in this area of high unmet medical need which includes many orphan indications with no current therapy.

Santhera currently has five clinical-stage development programs, three of which are investigating its lead compound, SNT-MC17 (INN: idebenone), for the treatment of Friedreich's Ataxia (FRDA), Duchenne Muscular Dystrophy (DMD) and Leber's Hereditary Optic Neuropathy (LHON). Another clinical program is investigating JP-1730 (INN: fipamezole) for the treatment of Dyskinesia in Parkinson's Disease (DPD) in cooperation with Juvantia, the compound's owner. The fifth program comprises SNT-317 (INN: omigapil) in Congenital Muscular Dystrophies (CMD), a compound in-licensed from Novartis. The most advanced program, SNT-MC17 in FRDA, is currently under review for marketing approval in the EU and will be submitted shortly in Canada. The compound is also in Phase III clinical development for FRDA in the US while the while the other clinical programs are in Phase II. For further information, please visit www.santhera.com.

For further information, contact

Klaus Schollmeier, Chief Executive Officer

Phone: +41 (0)61 906 89 52

klaus.schollmeier@...

Barbara Heller, Chief Financial Officer

Phone: +41 (0)61 906 89 54

barbara.heller@...

Thomas Staffelbach, VP Public & Investor Relations

Phone: +41 (0)61 906 89 47

thomas.staffelbach@...

Conference call

At 16.00 CET / 15.00 UKT / 10:00 EST today September 28, 2007, Santhera will host a conference call. People interested in participating may join the teleconference facility using the following dial-in in Switzerland +41 52 267 07 31 (no PIN code needed). The conference call will be recorded for playback and is available one hour after the conference call ends and for 10 days under +41 52 267 07 00 (reference 548258#).

http://www.medicalnewstoday.com/articles/83528.php

Transplants Using Adult Bone Marrow Stem Cells Restore Functions For Spinal Cord Injury Patients

Article Date: 26 Sep 2007 - 14:00 PDT

 
PrimeCell™ Therapeutics LLC announced that it provided research support and pre-clinical studies for a clinical trial that involved the implantation of autologous adult bone marrow stem cells into spinal cord injury (SCI) patients - resulting in some restored function for patients who have been paralyzed for an average of four years, some up to 22 years.

Dr. Luis Geffner presented a preliminary report on September 17 at the 2007 Congress of Neurological Surgeons Annual Meeting in San Diego. From May 2006 to August 2007, 38 patients with SCI were treated at Luis Vernaza Hospital in Guayaquil, Ecuador. They were treated with autologous bone marrow stem cells - meaning the cells were extracted from the patients' own bone marrow, taken from the hip bone (iliac crests).

Of the 25 patients who provided more than three months and up to 14 months follow up: 15 gained the ability to stand up, 10 could walk on the parallels with braces, seven could walk without braces and five could walk with crutches. Three patients recovered full bladder control, and 10 patients regained some form of sexual function. No adverse events or abnormal reactions to implantation were observed.

"Ongoing studies will help us clarify the benefits and any possible detriments to this approach, but so far this study demonstrates that bone marrow stem cells are safe for spinal cord injury patients," said Geffner, Director of the Stem Cells program at the Junta de Beneficencia de Guayaquil. He emphasized that this work was done with the help and support of Junta de Beneficencia, Benemerita Sociedad de Lucha Contra el Cancer (SOLCA), and with the research support and pre-clinical studies performed by PrimeCell Therapeutics, based in Irvine, Calif.

"By implanting an adult's own bone marrow stem cells, we've seen significant improvements in the quality of life for those who suffer from spinal cord injuries. In addition, we are learning valuable information that will eventually help us apply other adult cells for spinal cord injury such as reprogrammed adult germ cells," said Francisco Silva, executive vice president of research and development for PrimeCell Therapeutics. "We're encouraged by the results. This approach may be useful for patients who cannot be treated by conventional medicine."

More information on the study is available upon request, including video of some patients who underwent treatment.

About PrimeCell™ Therapeutics LLC

PrimeCell™ Therapeutics LLC, a PrimeGen Biotech company, is devoted exclusively to germ line stem cell reprogramming. Its next generation stem cell - PrimeCell™ - is an adult stem cell derived from the germ line and reprogrammed to exhibit pluripotency. Its innovative science and unique approach qualify PrimeCell Therapeutics as one of the preeminent biotechnology firms within the emerging field of regenerative medicine.

http://www.primecelltherapeutics.com

http://www.medicalnewstoday.com/articles/83571.php

Scientists Spot Sneaky "Neurodegenerative" Iron At The European Synchrotron

Article Date: 26 Sep 2007 - 18:00 PDT

Scientists suspect that iron accumulation plays a role in neurodegenerative processes such as Parkinson's disease, but its distribution in neurons has never been observed because of the lack of techniques to do so. Until today.

Researchers from CNRS at the University of Bordeaux (France), University of Sevilla (Spain), INSERM Grenoble Institute of Neurosciences (France) and ESRF have studied the iron distribution in an in vitro model of neuronal cells that produce dopamine. Dopamine is a neurotransmitter, a chemical messenger between nerve cells in the mammalian brain. Because dopamine can form stable complexes with iron, Richard Ortega, from the cellular chemical imaging group in Bordeaux, believed that dopamine may exert a protective effect by buffering iron in dopaminergic neurons and that this system might be at fault in Parkinson's disease.

To test this hypothesis, the team used the new nanoprobe imaging experimental station recently developed at the European Synchrotron Radiation Facility to study the distribution of elements in cells. The resolution of 90 nm allowed scientists to visualize the elements distribution in the neurotransmitter vesicles. The nanoprobe consists on exciting the sample with a strongly focused X-ray beam and collecting the characteristic fluorescence signal that is re-emitted. This allows showing the different trace elements in a point, and then the sample is scanned point by point to form a complete multi-element image of the cells.

The team shows that iron is stored within dopamine vesicles inside the neuronal cells. This is the first evidence of iron-dopamine co-localization in neuro-vesicles. The results also explain that when dopamine production is obstructed, the iron in the vesicles drastically decreases. This new function of dopamine vesicles in iron storage is of critical importance to understand the molecular mechanisms involved in Parkinson's disease. In this neurological disorder, dopamine vesicular storage has been found impaired. According to these results, this would increase the levels of highly toxic iron-dopamine complexes in the neurons. The results are published in PLoS ONE on September 26.

The synchrotron nano-imaging station offers a new tool for researchers involved not only in the study of neurodegenerative diseases but also in many other fields where the determination of metal ions distribution at the subcellular level is important such as: metal toxicology, chemical carcinogenesis, and cellular pharmacology of inorganic compounds. This is one of the reasons why the team decided to submit their results in an open access journal such as PLoS ONE: " We want the different scientific communities to know that this machine is available, and the best way is by letting everyone have access to the results", explains Peter Cloetens, in charge of the station at ESRF.

Citation: Ortega R, Cloetens P, Deve`s G, Carmona A, Bohic S (2007) Iron Storage within Dopamine Neurovesicles Revealed by Chemical Nano-Imaging. PLoS ONE 2(9): e925. doi:10.1371/journal.pone.0000925
Please click here

PLoS ONE is the first journal of primary research from all areas of science to employ both pre- and post-publication peer review to maximize the impact of every report it publishes. PLoS ONE is published by the Public Library of Science (PLoS), the open access publisher whose goal is to make the world's scientific and medical literature a public resource.

PLoS ONE

Public Library of Science
185 Berry Street, Suite 3100
San Francisco, CA 94107
USA

Fonte: Newsletter di Eurordis - ottobre 2007

http://www.eurordis.org/article.php3?id_article=1547 (articolo originale con fotografie)

VIVERE CON UNA MALATTIA RARA

Atassia di Friedreich

L’Atassia di Friedreich è una malattia genetica e progressiva che colpisce il sistema nervoso centrale, caratterizzata da sintomi generali come perdita di armoniosità dei movimenti, problemi di equilibrio, mancanza di coordinazione motoria e successivamente disturbi nell’articolazione del linguaggio. ‘All’età di 12 anni, Helen ha cominciato a soffrire di dolore alla schiena ed in seguito ad una visita presso un chirurgo ortopedico per la scoliosi, le fu consigliato di effettuare due interventi della durata di 6 ore ciascuno. Tra un’operazione e l’altra, cominciai a temere che Helen soffrisse di qualcosa di più serio, ma l’ortopedico cercò di allontanare le mie preoccupazioni,’ ricorda Mary Kearney, la madre di Helen e Brona. Otto mesi dopo gli interventi chirurgici, Helen soffriva di un forte dolore alla spalla sinistra e un fisioterapista le disse che aveva problemi alle articolazioni. ‘Mi rendevo conto che Helen aveva difficoltà nella coordinazione dei movimenti, così a giugno 2001 la portai da un neurologo che le diagnosticò l’Atassia di Friedreich. Ero davvero sconvolta e ricordo che cercavo di essere ottimista e di rassicurare Helen che non avrebbe dovuto far ricorso ad una sedia a rotelle prima dei 40 anni,’ continua Mary Kearney. Ma Helen si rese conto che probabilmente ne avrebbe avuto bisogno molto prima. ‘Ero solo una ragazzina ma sapevo che la malattia era grave e per questo ero molto depressa. Il dolore aumentava e il futuro mi si prospettava abbastanza cupo,’ racconta Helen ora diciottenne.

A causa della componente genetica, Mary venne a sapere che gli altri due figli, John e Brona, potevano essere esposti al rischio di sviluppare la stessa malattia e pertanto, l’estate successiva alla diagnosi di Helen, li sottopose entrambe a test genetico. Brona risultò positiva e John invece negativo. ‘Ero sorpresa perché la mia coordinazione motoria era sempre stata migliore di quella di Helen all’epoca. Non ero proprio sconvolta perché in realtà non sapevo che cosa volesse davvero significare. Invece nell’arco di due anni la situazione peggiorò provocandomi tanto sconforto,’ ricorda Brona ora quindicenne. Mary è una madre che lavora e dal 2004 è anche segretaria dell’associazione Euro-Ataxia. In seguito alla diagnosi delle loro figlie, lei e suo marito Michael presero in considerazione l’ipotesi di ridurre i loro impegni lavorativi. ‘Era importante però che i miei figli non pensassero che il loro handicap potesse comportare un qualsiasi cambiamento nella nostra vita. Per questo Michael chiese a Brona e ad Helen il loro parere sulla decisione di abbandonare il lavoro e la loro reazione immediata fu, "Ma chi pagherà per la nostra equitazione?" Così decidemmo di continuare a lavorare e di lasciare che tutto fosse come prima,’ afferma Mary.  

Le due ragazze oggi cercano di condurre una vita il più normale possibile. Helen ha difficoltà nei movimenti quando è stanca o quando c’è poca luce, ma riesce a salire sul suo pony bianco Robin senza nessun aiuto. La sua insegnante di equitazione una volta le ha detto di essere diventata bravissima nel dressage e nel salto a cavallo. Dopo gli interventi alla schiena Brona ha trovato più difficoltà a cavalcare, ma ha sempre pensato che rimanere attivi sia estremamente importante per chi soffre di Atassia di Friedreich. ‘I miei interessi principali sono la caccia, l’endurance (altrimenti detta “Fondo”), il trekking e a volte anche il cross country. A scuola non ho molte difficoltà perché sono in grado di muovermi negli spazi come tutti gli altri. L’unica parte difficile è che non posso praticare le stesse attività sportive dei miei compagni perché non sono così veloce o reattiva come loro,’ dichiara Brona.

Helen parla sempre della sua malattia attraverso Robin, il suo pony bianco: ‘Non ho paura delle brutte cadute. Non ho intenzione di vivere la mia vita nella paura di cadere dal mio cavallo. Robin è delicato e anche se cado, non si allontana mai, ma ha cura di me.’

Autrice: Nathacha Appanah
Traduttrice: Roberta Ruotolo
Fotografie: Brona e Helen Kearney; Brona Kearney, Helen Kearney Eurordis/Kearney

09/2007

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Fuente: El Boletín de Eurordis  - Octubre 2007

http://www.eurordis.org/article.php3?id_article=1543

VIVIR CON UNA ENFERMEDAD RARA (artículo original con fotos)

Ataxia de Friedreich

La Ataxia de Friedreich es una enfermedad genética y progresiva del sistema nervioso central, cuyos síntomas principales son torpeza, dificultades con el equilibrio, falta de coordinación y con el tiempo dificultad al hablar. ‘Cuando Helen tenía 12 años, empezó a tener dolores de espalda y consultamos a un cirujano ortopédico por una escoliosis. Nos recomendó dos operaciones de seis horas. Entre operación y operación, temí que a Helen podría pasarle algo más, pero el especialista descartó mis preocupaciones,’ recuerda Mary Kearney, madre de Helen y Brona. Ocho meses después de la operación, Helen tuvo dolor agudo en el hombro derecho. Un fisioterapeuta dijo que tenía un problema en sus articulaciones. ‘Podía ver que Helen tenía problemas de coordinación, así que en junio de 2002 la llevé a un neurólogo que diagnosticó Ataxia de Friedreich. Estaba muy preocupada y recuerdo intentar ser optimista y decirle a Helen que probablemente no necesitara una silla de ruedas hasta los 40 años,’ dice Mary Kearney. Pero Helen se dio cuenta de que era probable que la necesitara antes. ‘Sólo era una adolescente pero sabía que era serio y parecía malo. Las preocupaciones por los dolores que iban en aumento tenían mala pinta,’ dice Helen, de 18 años.

Debido al factor genético, Mary sabía que sus otros dos hijos, John y Brona, corrían peligro y les hicieron las pruebas el verano siguiente al diagnóstico de Helen. Brona resultó positivo y John negativo. ‘Me sorprendió porque mi equilibrio siempre había parecido mejor que el de Helen en aquel tiempo. No estaba tan preocupada porque no sabía lo que significaba. En dos años caí en la cuenta y estuve muy deprimida,’ recuerda Brona, ahora con 15 años. Mary es una madre trabajadora y secretaria de Euro-Ataxia desde 2004. Tras el diagnóstico de sus hijas, su marido Michael y ella se plantearon reducir sus trabajos. ‘Era importante que mis hijos no pensaran que su discapacidad significara cambios en mí. Michael preguntó a Brona y Helen lo que pensaban sobre dejar sus empleos y su inmediata reacción fue, "Pero, ¿quién pagará la equitación?" Así que mantuvimos nuestros empleos e intentamos que las cosas se quedaron como antes,’ dice Mary.

Las dos llevan una vida lo más normal posible. A Helen le resulta difícil andar cuando está cansada o en la oscuridad, pero puede montar su pony blanco Robin sin ayuda. Su profesor de equitación dijo que se ha convertido en ‘una destacada amazona para su edad en dressage y concursos hípicos.’ A Brona le resultó más duro la equitación después de la operación de espalada, pero piensa que mantenerse activa es imprescindible para alguien que padece Ataxia de Friedreich. ‘Mis principales aficiones son la caza, equitación de resistencia, trekking y a veces campo a través. La escuela está bien, porque puedo moverme como los demás. Lo único duro es no poder hacer ciertos deportes con los demás porque no soy tan rápida,’ declara Brona. Helen siempre habla de su enfermedad a través de Robin, su pony blanco: ‘No me preocupa sufrir una caída mortal. No voy a vivir mi vida con miedo a caerme del caballo. Robin es gentil e incluso si me caigo, nunca se escapa. Me cuida.’

Autor: Nathacha Appanah
Traductor: Conchi Casas Jorde
Fotos: Brona y Helen Kearney; Brona Kearney, Helen Kearney Eurordis/Kearney

09/2007

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=17826840&ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

1: Pharmacol Ther. 2007 Aug 9; [Epub ahead of print]

Small molecules affecting transcription in Friedreich ataxia.

Gottesfeld JM.

Department of Molecular Biology, MB-27, The Scripps Research Institute, 10550 N. Torrey Pines Road, La Jolla, CA 92037, USA.

This review concerns the development of small molecule therapeutics for the inherited neurodegenerative disease Friedreich ataxia (FRDA). FRDA is caused by transcriptional repression of the nuclear FXN gene, encoding the essential mitochondrial protein frataxin and accompanying loss of frataxin protein. Frataxin insufficiency leads to mitochrondrial dysfunction and progressive neurodegeneration, along with scoliosis, diabetes and cardiomyopathy. Individuals with FRDA generally die in early adulthood from the associated heart disease, the most common cause of death in FRDA. While antioxidants and iron chelators have shown promise in ameliorating the symptoms of the disease, there is no effective therapy for FRDA that addresses the cause of the disease, the loss of frataxin protein. Gene therapy and protein replacement strategies for FRDA are promising approaches; however, current technology is not sufficiently advanced to envisage treatments for FRDA coming from these approaches in the near future. Since the FXN mutation in FRDA, expanded GAA*TTC triplets in an intron, does not alter the amino acid sequence of frataxin protein, gene reactivation would be of therapeutic benefit. Thus, a number of laboratories have focused on small molecule activators of FXN gene expression as potential therapeutics, and this review summarizes the current status of these efforts, as well as the molecular basis for gene silencing in FRDA.

PMID: 17826840 [PubMed - as supplied by publisher]