Routine Clinical Testing Underestimates Proprioceptive Deficits in Friedreich's Ataxia.

Routine Clinical Testing Underestimates Proprioceptive Deficits in Friedreich's Ataxia. Borchers S, Synofzik M, Kiely E, Himmelbach M., Cerebellum. 2013 Jul 27. DOI: http://dx.doi.org/10.1007/s12311-013-0508-5

Keyword: Friedreich's ataxia (FA), degeneration of dorsal root ganglia neurons, proprioceptive deficits, monitoring of disease progression, drug trials, clinical tests for joint position sense (JPS), vibration sense (VS), spatial position sense (SPS).

Bioenergetics of the Calf Muscle in Friedreich Ataxia Patients Measured by 31P-MRS Before and After Treatment with Recombinant Human Erythropoietin

Bioenergetics of the Calf Muscle in Friedreich Ataxia Patients Measured by 31P-MRS Before and After Treatment with Recombinant Human Erythropoietin . Nachbauer W, Boesch S, Schneider R, Eigentler A, Wanschitz J, et al. (2013) . PLoS ONE 8(7): e69229. doi:10.1371/journal.pone.0069229

OPEN ACCESS, FULL TEXT PDF

A High-Throughput Assay for Frataxin Allows for Newborn Screening, Diagnosis, and Treatment Monitoring of Friedreich Ataxia

A High-Throughput Assay for Frataxin Allows for Newborn Screening, Diagnosis, and Treatment Monitoring of Friedreich Ataxia. Goldstein A.; Clinical Chemistry July 2013, doi: 10.1373/clinchem.2013.211094

Induced Pluripotent Stem Cells from Friedreich Ataxia Patients Fail to Up-regulate Frataxin during in vitro Differentiation to Peripheral Sensory Neurons.

Induced Pluripotent Stem Cells from Friedreich Ataxia Patients Fail to Up-regulate Frataxin during in vitro Differentiation to Peripheral Sensory Neurons. Eigentler A, Boesch S, Schneider R, Dechant G, Nat R; Stem Cells Dev. 2013 Jul 23.

KEYWORDS: induced pluripotent stem cells (iPSCs), Friedreich Ataxia (FRDA), peripheral sensory neurons, frataxin expression.

Iron metabolism in the CNS: implications for neurodegenerative diseases

Iron metabolism in the CNS: implications for neurodegenerative diseases. Tracey A. Rouault; Nature Reviews Neuroscience 14, 551–564 (2013) doi:10.1038/nrn3453

Keywords: Abnormal accumulation of brain iron, neurodegenerative diseases.

The role of the N-terminal tail for the oligomerization, folding and stability of human frataxin

The role of the N-terminal tail for the oligomerization, folding and stability of human frataxin. Santiago Faraj, Leandro Venturutti, Ernesto A. Roman, Cristina B. Marino-Buslje, Astor Mignone, Silvio C.E. Tosatto, José M. Delfino, Javier Santos; FEBS Open Bio, Available online 24 July 2013. http://dx.doi.org/10.1016/j.fob.2013.07.004

OPEN ACCESS, FULL TEXT PDF

Molecular and Functional Alterations in a Mouse Cardiac Model of Friedreich Ataxia Activation of the Integrated Stress Response, eIF2α Phosphorylation, and the Induction of Downstream Targets

Molecular and Functional Alterations in a Mouse Cardiac Model of Friedreich Ataxia : Activation of the Integrated Stress Response, eIF2α Phosphorylation, and the Induction of Downstream Targets. Michael Li-Hsuan Huang, Sutharshani Sivagurunathan, Samantha Ting, Patric J. Jansson, Christopher J.D. Austin, Matthew Kelly, Christopher Semsarian, Daohai Zhang, Des R. Richardson. The American Journal of Pathology, Available online 22 July 2013. http://dx.doi.org/10.1016/j.ajpath.2013.05.032

Stem Cells for the FA: The Court says no to the rejection of judges in Florence.

Metodo Stamina: il Tribunale dice no alla ricusazione dei giudici di Firenze. La Nazione, Firenze, Firenze, 22 luglio 2013

Stem Cells for the FA: The Court says no to the rejection of judges in Florence.

It was rejected the application for disqualification of judges filed by the parents of a 12 years old girl who suffer from a Friedreich Ataxia, the Florence court authority deny to access at "compassionate use" with the method of stem cells.

Questa volta però il lieto fine ancora non c'è, in quanto è stata respinta la richiesta di ricusazione dei giudici presentata dai genitori di una ragazzina di 12 anni affetta da una malattia degenerativa - Atassia di Friedreich - alla quale il tribunale di Firenze ha negato l'autorizzazione ad accedere alle cure compassionevoli con metodo Stamina.

Ocular-Motor Profile and Effects of Memantine in a Familial Form of Adult Cerebellar Ataxia with Slow Saccades and Square Wave Saccadic Intrusions

Ocular-Motor Profile and Effects of Memantine in a Familial Form of Adult Cerebellar Ataxia with Slow Saccades and Square Wave Saccadic Intrusions. Rosini F, Federighi P, Pretegiani E, Piu P, Leigh RJ, Alessandro Serra, Antonio Federico, Alessandra Rufa (2013). PLoS ONE 8(7): e69522. doi:10.1371/journal.pone.0069522

OPEN ACCESS, FULL TEXT PDF

Thus, our report suggests that memantine may have some general suppressive effect on saccadic intrusions, including both SWI and MSO, thereby restoring the capacity of reading and visual attention in these and in other recessive forms of ataxia, including Friedreich’s, in which saccadic intrusions are prominent.

Abnormal body iron distribution and erythropoiesis in a novel mouse model with inducible gain of iron regulatory protein (IRP)-1 function

Abnormal body iron distribution and erythropoiesis in a novel mouse model with inducible gain of iron regulatory protein (IRP)-1 function. D. Casarrubea, L. Viatte, T. Hallas, A. Vasanthakumar, R. S. Eisenstein, K. Schümann, M. W. Hentze and B. Galy. J Mol Med (Berl). 2013 July; 91(7): 871–881. Published online 2013 March 1. doi: 10.1007/s00109-013-1008-2

It opens novel avenues to study diseases associated with abnormally high IRP1 activity, such as Parkinson’s disease or Friedreich’s ataxia.

Insights into the role of oxidative stress in the pathology of Friedreich Ataxia using peroxidation resistant polyunsaturated fatty acids

Insights into the role of oxidative stress in the pathology of Friedreich Ataxia using peroxidation resistant polyunsaturated fatty acids. M.Grazia Cotticelli, Andrew M. Crabbe, Robert B. Wilson, Mikhail S. Shchepinov; Redox Biology, Available online 19 July 2013. DOI: http://dx.doi.org/10.1016/j.redox.2013.06.004

Open Access Article

FULL TEXT PDF

Clinical features of Friedreich's ataxia: classical and atypical phenotypes

Clinical features of Friedreich's ataxia: classical and atypical phenotypes. Michael H. Parkinson, Sylvia Boesch, Wolfgang Nachbauer, Caterina Mariotti, Paola Giunti. J. Neurochem.(2013) 126 (Suppl. 1), 103–117. DOI: 10.1111/jnc.12317

FULL TEXT PDF

Increasing frataxin gene expression with histone deacetylase inhibitors as a therapeutic approach for Friedreich's ataxia

Increasing frataxin gene expression with histone deacetylase inhibitors as a therapeutic approach for Friedreich's ataxia. Joel M. Gottesfeld, James R. Rusche and Massimo Pandolfo. J. Neurochem.(2013) 126 (Suppl. 1), 147–154. DOI: 10.1111/jnc.12302

FULL TEXT PDF

Cardiomyopathy of Friedreich Ataxia

Cardiomyopathy of Friedreich Ataxia Frank Weidemann, Stefan Störk, Dan Liu, Kai Hu, Sebastian Herrmann, Georg Ertl and Markus Niemann. J. Neurochem.(2013) 126 (Suppl. 1), 88–93. DOI: 10.1111/jnc.12217

FULL TEXT PDF

Erythropoietin in Friedreich ataxia

Erythropoietin in Friedreich ataxia. Caterina Mariotti, Wolfgang Nachbauer, Marta Panzeri, Werner Poewe, Franco Taroni and Sylvia Boesch. J. Neurochem.(2013) 126 (Suppl. 1), 80–87. DOI: 10.1111/jnc.12301

FULL TEXT PDF

Animal and cellular models of Friedreich ataxia

Animal and cellular models of Friedreich ataxia. Morgane Perdomini, Aurore Hick, Hélène Puccio and Mark A. Pook. J. Neurochem.(2013) 126 (Suppl. 1), 65–79. DOI: 10.1111/jnc.12219

FULL TEXT PDF

Frataxin: a protein in search for a function

Frataxin: a protein in search for a function. Annalisa Pastore and Helene Puccio; J. Neurochem.(2013) 126 (Suppl. 1), 43–52. DOI: 10.1111/jnc.12220

FULL TEXT PDF

Gene regulation and epigenetics in Friedreich's ataxia

Gene regulation and epigenetics in Friedreich's ataxia. Cihangir Yandim, Theona Natisvili and Richard Festenstein. J. Neurochem.(2013) 126 (Suppl. 1), 21–42. DOI: 10.1111/jnc.12254

FULL TEXT PDF

Prevalence gradients of Friedreich's Ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refuge

Prevalence gradients of Friedreich's Ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refuge. Pierre Vankan; J. Neurochem.(2013) 126 (Suppl. 1), 11–20. DOI: 10.1111/jnc.12215

FULL TEXT PDF

Nikolaus Friedreich and degenerative atrophy of the dorsal columns of the spinal cord

Nikolaus Friedreich and degenerative atrophy of the dorsal columns of the spinal cord. Arnulf H. Koeppen; J. Neurochem.(2013) 126 (Suppl. 1), 4–10. DOI: 10.1111/jnc.12218

FULL TEXT PDF

Deferiprone for the treatment of Friedreich's ataxia

Deferiprone for the treatment of Friedreich's ataxia. Massimo Pandolfo1, Laura Hausmann. J. Neurochem.(2013) 126 (Suppl. 1), 142–146. DOI: 10.1111/jnc.12300

FULL TEXT PDF

Co-enzyme Q10 and idebenone use in Friedreich's ataxia

Co-enzyme Q10 and idebenone use in Friedreich's ataxia. Michael H Parkinson, Jörg B. Schulz, Paola Giunti1; J. Neurochem.(2013) 126 (Suppl. 1), 125–141. DOI: 10.1111/jnc.12322

FULL TEXT PDF

Diabetes in Friedreich Ataxia

Diabetes in Friedreich Ataxia. Miriam Cnop, Hindrik Mulder, Mariana Igoillo-Esteve. J. Neurochem.(2013) 126 (Suppl. 1), 94–102. DOI: 10.1111/jnc.12216

FULL TEXT PDF

Monitoring progression in Friedreich ataxia (FRDA): the use of clinical scales

Monitoring progression in Friedreich ataxia (FRDA): the use of clinical scales; Katrin Bürk Stefanie R. Schulz, Jörg B. Schulz; J. Neurochem.(2013) 126 (Suppl. 1),118–124. DOI: 10.1111/jnc.12318

FULL TEXT PDF

Mitochondrial pathophysiology in Friedreich's ataxia

Mitochondrial pathophysiology in Friedreich's ataxia Pilar González-Cabo and Francesc Palau; J. Neurochem.(2013) 126 (Suppl. 1), 53–64. DOI: 10.1111/jnc.12303

FULL TEXT PDF

Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's Ataxia

Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's Ataxia. ClinicalTrials.gov

A Phase 1, Randomized, Double-blind, Placebo-controlled, Multicenter, Single and Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Oral VP 20629 in Adult Subjects With Friedreich's Ataxia, Sponsor: ViroPharma

The objectives of the study are:

To evaluate the safety and tolerability of single and multiple oral doses of VP 20629 in subjects with Friedreich's ataxia (FA). [Primary]
To characterize the pharmacokinetics of VP 20629 by investigation of the plasma concentration-time profile following single and multiple oral doses in subjects with FA. [Secondary]
To investigate the pharmacodynamic effects of VP 20629 on plasma 8-isoprostane and malondialdehyde and urinary 8-hydroxydeoxyguanosine concentrations following multiple oral doses in subjects with FA. [Exploratory]

uniQure signs EU commercialization agreement with Chiesi Farmaceutici for first approved gene therapy treatment, and announces EUR 45 million (USD 58 million) in equity and collaboration financing

uniQure signs EU commercialization agreement with Chiesi Farmaceutici for first approved gene therapy treatment, and announces EUR 45 million (USD 58 million) in equity and collaboration financing


Amsterdam, the Netherlands, July 9, 2013

Biochemistry of cardiomyopathy in the mitochondrial disease Friedreich's ataxia

Biochemistry of cardiomyopathy in the mitochondrial disease Friedreich's ataxia. Darius J. R. Lane, Michael Li‑Hsuan Huang, Samantha Ting, Sutharshani Sivagurunathan and Des R. Richardson; Biochem. J. (2013) 453 (321–336) (Printed in Great Britain) doi:10.1042/BJ20130079

Key words: apoptosis, autophagy, cardiomyopathy, frataxin, Friedreich’s ataxia, integrated stress response.

Low-cost evaluation and real-time feedback of static and dynamic weight bearing asymmetry in patients undergoing in-patient physiotherapy rehabilitation for neurological conditions

Low-cost evaluation and real-time feedback of static and dynamic weight bearing asymmetry in patients undergoing in-patient physiotherapy rehabilitation for neurological conditions. Joanna Foo, Kade Paterson, Gavin Williams and Ross Clark; Journal of NeuroEngineering and Rehabilitation 2013, 10:74 doi:10.1186/1743-0003-10-74

OPEN ACCESS

Weight bearing asymmetry is common in patients with neurological conditions, and recent advances in gaming technology have produced force platforms that are suitable for use in a clinical setting. The aim of this research is to determine whether commercially-available Wii Balance Boards with customized software providing real-time feedback could be used in a clinical setting to evaluate and improve weight-bearing asymmetry in people with various neurological conditions.

Five markers useful for the distinction of canine mammary malignancy

Five markers useful for the distinction of canine mammary malignancy. Karol M Pawlowski, Henryk Maciejewski, Kinga Majchrzak, Izabella Dolka, Jan A Mol, Tomasz Motyl, Magdalena Król. BMC Veterinary Research 2013, 9:138 doi:10.1186/1746-6148-9-138.

OPEN ACCESS

The other selected gene is mipep which is involved in cellular metabolism. The product of this gene performs the final step in processing of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane [17]. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia (FA). The exact function of frataxin is still unclear, however it has been implicated in iron homeostasis, protection from oxidative stress and apoptosis [18]. Conflicting results have been reported regarding the role of frataxin in cellular growth: both frataxin knockdown and frataxin overexpression impair cell growth. Despite the role of frataxin in cancer is unknown, the relation between FA and malignancy has been suggested [19].

High-Throughput Immunoassay for the Biochemical Diagnosis of Friedreich Ataxia in Dried Blood Spots and Whole Blood

High-Throughput Immunoassay for the Biochemical Diagnosis of Friedreich Ataxia in Dried Blood Spots and Whole Blood. Devin Oglesbee, Charles Kroll, Oleksandr Gakh, Eric C. Deutsch, David R. Lynch, Ralitza Gavrilova, Silvia Tortorelli, Kimiyo Raymond, Dimitar Gavrilov, Piero Rinaldo, Dietrich Matern and Grazia Isaya; Clinical Chemistry clinchem.2013.207472 Published July 9, 2013.

Keywords: Friedreich ataxia (FRDA), frataxin (FXN), clinical diagnosis, therapeutic monitoring, population screening, immunoassay for measuring FXN.

Ferredoxin competes with bacterial frataxin in binding to the desulfurase IscS

Ferredoxin competes with bacterial frataxin in binding to the desulfurase IscS. Robert Yan, Petr V. Konarev, Clara Iannuzzi, Salvatore Adinolfi, Beatrice Roche, Geoff Kelly, Lea Simon, Stephen R. Martin, Beatrice Py, Frederic Barras, Dmitri I. Svergun, and Annalisa Pastore; J. Biol. Chem. jbc.M113.480327. First Published on July 9, 2013, doi:10.1074/jbc.M113.480327

Keywords: bacterial ISC operon, iron-sulfur cluster biogenesis, desulfurase IscS, ferredoxin, ferredoxin/IscS complex, frataxin.

Neurodegeneration in Friedreich’s Ataxia: From Defective Frataxin to Oxidative Stress

Neurodegeneration in Friedreich’s Ataxia: From Defective Frataxin to Oxidative Stress. Cláudio M. Gomes and Renata Santos; Oxidative Medicine and Cellular Longevity, vol. 2013, Article ID 487534, 10 pages, 2013. doi:10.1155/2013/487534

OPEN ACCESS, FULL TEXT PDF

Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction

Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction. Martin St John Sutton, Bonnie Ky, Sean R. Regner, Kim Schadt, Ted Plappert, Jiwei He, Benjamin D'Souza and David R. Lynch; Echocardiography 2013;0:1–8, Article first published online: 9 JUL 2013 | DOI: 10.1111/echo.12287

Keywords: Friedreich ataxia, myocardial strain, speckle tracking echocardiography, left ventricular hypertrophy, heart failure

Genome instability studies could change treatment for cancer and other diseases

Genome instability studies could change treatment for cancer and other diseases. PENN State News, Huck Institutes of the Life Sciences, by Seth Palmer, July 1, 2013

Prior evolutionary studies have indicated that long microsatellites are biased towards a type of mutation known as repeat expansion, which increases the number of times that a DNA sequence is repeated and which is known to cause inherited disorders such as Huntington's Disease, myotonic dystrophy, fragile X syndrome type A, Friedreich's ataxia, and a number of spinocerebellar ataxias.

Diagnosis and Genetic Counseling for Friedreich’s Ataxia: A time for consideration of TP-PCR in an Indian Setup

Diagnosis and Genetic Counseling for Friedreich’s Ataxia: A time for consideration of TP-PCR in an Indian Setup . Muthuswamy S, Agarwal S, Dalal AR; Hippokratia 2013, 17(1):38-41

Keywords: Triplet repeat primed-PCR, Friedreich’s ataxia, trinucleotide repeat disorder, genetic counseling, family screening

FULL TEXT PDF

Histone deacetylases govern heterochromatin in every phase

Histone deacetylases govern heterochromatin in every phase. Yota Murakami, The EMBO Journal advance online publication 5 July 2013; doi:10.1038/emboj.2013.154; Published online: 5 July 2013

Deacetylation of histone tails has been shown to play a role during heterochromatin formation, but the precise mechanism of action has not been understood. Complementary results presented in two recent articles in The EMBO Journal (Alper et al, 2013; Buscaino et al, 2013) together reveal how histone deacetylases (HDACs) affect the various phases of heterochromatin formation: establishment, maintenance and spreading.

MUNDUS project: MUltimodal Neuroprosthesis for daily Upper limb Support

MUNDUS project: MUltimodal Neuroprosthesis for daily Upper limb Support. Alessandra Pedrocchi, Simona Ferrante, Emilia Ambrosini, Marta Gandolla, Claudia Casellato, Thomas Schauer, Christian Klauer, Javier Pascual, Carmen Vidaurre, Margit Gfoehler, Werner Reichenfelser, Jakob Karner, Silvestro Micera, Andrea Crema, Franco Molteni, Mauro Rossini, Giovanna Palumbo, Eleonora Guanziroli, Andreas Jedlitschka, Marco Hack, Maria Bulgheroni, Enrico d¿Amico, Peter Schenk, Sven Zwicker, Alexander Duschau-Wicke, Justinas Miseikis, Lina Graber and Giancarlo Ferrigno; Journal of NeuroEngineering and Rehabilitation 2013, doi:10.1186/1743-0003-10-66, Published: 3 July 2013

Background

MUNDUS is an assistive framework for recovering direct interaction capability of severely motor impaired people based on arm reaching and hand functions. It aims at achieving personalization, modularity and maximization of the user's direct involvement in assistive systems. To this, MUNDUS exploits any residual control of the end-user and can be adapted to the level of severity or to the progression of the disease allowing the user to voluntarily interact with the environment. MUNDUS target pathologies are high-level spinal cord injury (SCI) and neurodegenerative and genetic neuromuscular diseases, such as amyotrophic lateral sclerosis, Friedreich ataxia, and multiple sclerosis (MS). The system can be alternatively driven by residual voluntary muscular activation, head/eye motion, and brain signals. MUNDUS modularly combines an antigravity lightweight and non-cumbersome exoskeleton, closed-loop controlled Neuromuscular Electrical Stimulation for arm and hand motion, and potentially a motorized hand orthosis, for grasping interactive objects.

OPEN ACCESS, Full text pdf

Ataxie de Friedreich, La recherche progresse (English translation)

Translation courtesy of John Spencer. Thanks to Alex Bernard for authorizing publish the translation of the full text.

"Finding money for research is always a problem, "says researcher, Dr. Tremblay

Friedreich's ataxia is caused by a mutation in a related to the production of a protein called frataxin gene. Patients with this disease produce less frataxin which causes cell death. Normally, cells that die are replaced, except in the brain and heart. The disease therefore causes neural and cardiac symptoms in those who are affected.

The solution is to increase frataxin in patients and to get there, we evaluate different avenues, either by injecting frataxin in patients or by different techniques, including gene therapy by stimulating the production of the protein.

Dr. Tremblay came to interesting results, thanks to "Tale" proteins he got increases of 2 to 3 times the expression of frataxin with this approach. Patent applications have been filed on this technology.

"The great difficulty in the development of therapy is that it may be necessary to go into clinical trials. This can cost $ 1 to 2 million dollars for a single trial on a dozen patients. In this type of research, which we are always limited by budgets," says Dr. Tremblay.

When he does tests on animals, it can produce its own virus that costs a few thousand dollars. Conversely, when it is tested on humans should viruses highest quality are produced by only a handful of laboratories around the world.

Funding is difficult to find because the pharmaceutical companies have less interest in treating of orphan diseases and as a result, government agencies fund some research.

"I created an international consortium to promote gene therapy. One of our primary goals is to lobby governments to increase the amount of money spent on research for gene therapy because perhaps it could help develop treatments for many orphan diseases.

The researcher points out that the development of gene therapy is not limited only to orphan diseases, but it can contribute to treatments for many other afflictions, including cancer.

This therapy involves injecting a virus whose center core was replaced by part of genes. If we develop a virus to treat Friedreich's ataxia, it can also be used to treat diseases of vision, some hearing or lung disorders.

"I am very optimistic that we can develop treatments for Friedreich's ataxia. I hope to go to trial within 2 to 3 years, "expressed Dr. Tremblay. It still needs more work on his animal models to obtain the necessary approvals from Health Canada before he can move to clinical trials. But even with these authorizations, the research is dependent on the ability of Dr. Tremblay to find money.

Source:

Ataxie de Friedreich, La recherche progresse . Journal de Chambly, Par Alex Bernard, Mardi 2 juillet 2013 16:20:02 HAE

New treatments for mitochondrial disease—no time to drop our standards

New treatments for mitochondrial disease—no time to drop our standards. Gerald Pfeffer, Rita Horvath, Thomas Klopstock, Vamsi K. Mootha, Anu Suomalainen, Saskia Koene, Michio Hirano, Massimo Zeviani, Laurence A. Bindoff, Patrick Yu-Wai-Man, Michael Hanna, Valerio Carelli, Robert McFarland, Kari Majamaa, Douglas M. Turnbull, Jan Smeitink & Patrick F. Chinnery; Nature Reviews Neurology, 2013/07/02 advance online publication, doi:10.1038/nrneurol.2013.129

Ataxie de Friedreich, La recherche progresse

Ataxie de Friedreich, La recherche progresse . Journal de Chambly, Par Alex Bernard, Mardi 2 juillet 2013 16:20:02 HAE

«Je suis très optimiste qu’on puisse développer des traitements pour l’ataxie de Friedreich. J’espère pouvoir aller en essai clinique d’ici 2 à 3 ans», exprime Dr Tremblay.

Gene Therapy Cures a Severe Pediatric Neurodegenerative Disease in Animal Models

Gene Therapy Cures a Severe Pediatric Neurodegenerative Disease in Animal Models. Universitat Autònoma de Barcelona (2013, July 2). ScienceDaily. Retrieved July 3, 2013, from http://www.sciencedaily.com­ /releases/2013/07/130702100344.htm

July 2, 2013 — A single session of a gene therapy developed by the Universitat Autònoma de Barcelona (UAB) cures Sanfilippo Syndrome A in animal models. This syndrome is a neurodegenerative disease that affects between 1 and 9 out of every 100,000 children, and causes the death of the child on reaching adolescence.


Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy. Virginia Haurigot, Sara Marcó, Albert Ribera, Miguel Garcia, Albert Ruzo, Pilar Villacampa, Eduard Ayuso, Sònia Añor, Anna Andaluz, Mercedes Pineda, Gemma García-Fructuoso, Maria Molas, Luca Maggioni, Sergio Muñoz, Sandra Motas, Jesús Ruberte, Federico Mingozzi, Martí Pumarola, Fatima Bosch
J Clin Invest. 2013; doi:10.1172/JCI66778

FULL TEXT PDF

Regulation of fatty acid metabolism by mTOR in adult murine hearts occurs independently of changes in PGC-1α

Regulation of fatty acid metabolism by mTOR in adult murine hearts occurs independently of changes in PGC-1α. Yi Zhu, Jamie Soto, Brandon Anderson, Christian Riehle, Yi Cheng Zhang, Adam R Wende, Deborah Jones, Donald A. McClain, and E. Dale Abel, Am J Physiol Heart Circ Physiol ajpheart.00877.2012; published ahead of print April 26, 2013, doi: 10.​1152/​ajpheart.​00877.​2012

In conclusion, mTOR regulates mitochondrial fatty acid utilization but not glucose utilization in the heart via mechanisms that are independent of changes in PGC expression.