BIOMARKERS IN RARE NEUROMUSCULAR DISEASES

BIOMARKERS IN RARE NEUROMUSCULAR DISEASES . Chiara Scotton, Chiara Passarelli, Marcella Neri, Alessandra Ferlini; Experimental Cell Research, Available online 31 December 2013.

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Agilis Biotherapeutics and Intrexon to Pursue Transformative Therapies for Rare Genetic Disease

Agilis Biotherapeutics and Intrexon to Pursue Transformative Therapies for Rare Genetic Disease. NEW YORK and GERMANTOWN, Md., Dec. 31, 2013 /PRNewswire.

Agilis Biotherapeutics, LLC, a synthetic biology-based company focused on rare genetic diseases, and Intrexon Corporation (NYSE: XON), a leader in synthetic biology, announced today an Exclusive Channel Collaboration (ECC) to develop DNA-based therapeutics for Friedreich's ataxia (FRDA), a rare genetic neurodegenerative disease.

Prevalence of ataxia in children

Prevalence of ataxia in children. Kristin E. Musselman, Cristina T. Stoyanov, Rhul Marasigan, Mary E. Jenkins, Jürgen Konczak, Susanne M. Morton, and Amy J. Bastian; Neurology January 7, 2014 vol. 82 no. 1 80-89, doi: 10.1212/01.wnl.0000438224.25600.6c

The prevalence of childhood ataxias in Europe was estimated to be ∼26/100,000 children and likely reflects a minimum prevalence worldwide. The findings show that ataxia is a common childhood motor disorder with a higher prevalence than previously assumed.

Càpsules de Ciència. Joaquim Ros

Reconciling uncertainty of costs and outcomes with the need for access to orphan medicinal products: a comparative study of managed entry agreements across seven European countries

Reconciling uncertainty of costs and outcomes with the need for access to orphan medicinal products: a comparative study of managed entry agreements across seven European countries. Thomas Morel, Francis Arickx, Gustaf Befrits, Paolo Siviero, Caroline van der Meijden, Entela Xoxi and Steven Simoens; Orphanet Journal of Rare Diseases 2013, 8:198 doi:10.1186/1750-1172-8-198

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Tandem Repeat Modification during Double-Strand Break Repair Induced by an Engineered TAL Effector Nuclease in Zebrafish Genome

Tandem Repeat Modification during Double-Strand Break Repair Induced by an Engineered TAL Effector Nuclease in Zebrafish Genome. Huang W, Zheng J, He Y, Luo, PLoS ONE 8(12): e84176. doi:10.1371/journal.pone.0084176

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Dysphagia and swallowing-related quality of life in Friedreich ataxia

Dysphagia and swallowing-related quality of life in Friedreich ataxia. Adam P. Vogel, Sophie E. Brown, Joanne E. Folker, Louise A. Corben, Martin B. Delatycki;
Journal of Neurology, December 2013. DOI 10.1007/s00415-013-7208-4

Keywords: Dysphagia, Friedreich ataxia (FRDA), quality of life, oral-motor examination, speech and swallowing, incoordination, weakness, spasticity.

Role of Frataxin, a Protein Implicated in Friedreich Ataxia, in Making Iron-Sulfur Clusters

Role of Frataxin, a Protein Implicated in Friedreich Ataxia, in Making Iron-Sulfur Clusters. The Journal of Biological Chemistry, 288, 36787. December 27, 2013; 10.1074/jbc.P113.525857

The authors concluded that their work “may help develop a drug for treating Friedreich ataxia associated with frataxin deficiency.”

See referenced article: Frataxin Directly Stimulates Mitochondrial Cysteine Desulfurase by Exposing Substrate-binding Sites, and a Mutant Fe-S Cluster Scaffold Protein with Frataxin-bypassing Ability Acts Similarly. J. Biol. Chem. 2013, 288, 36773–36786.

Common defects of mitochondria and iron in neurodegeneration and diabetes (MIND): A paradigm worth exploring

Common defects of mitochondria and iron in neurodegeneration and diabetes (MIND): A paradigm worth exploring; Matthew Stroh, Russell H. Swerdlow, Hao Zhu; Biochemical Pharmacology, Available online 19 December 2013.

Erythropoietin and the heart: Physiological effects and the therapeutic perspective

Erythropoietin and the heart: Physiological effects and the therapeutic perspective. Fabian Sanchis-Gomar, José Luis Garcia-Gimenez, Helios Pareja-Galeano, Marco Romagnoli, Carme Perez-Quilis, Giuseppe Lippi; International Journal of Cardiology, Available online 18 December 2013, http://dx.doi.org/10.1016/j.ijcard.2013.12.011

Keywords: Myocardial infarction; cardioprotection; remodelling; EpoR; angiogenesis; apoptosis; inflammation; pleiotropic actions; Friedreich’s ataxia

If rhEpo or its analogues improve(s) the muscle and mitochondrial function it would help improve the cardiac function. However, none of these studies and clinical trials mentioned the long-term effect of rhEpo on the heart of FRDA. Thus, an effort designing a clinical trial involving treatments a long term in FRDA patients are strongly recommended.