Mitochondrial iron–sulfur protein biogenesis and human disease

Mitochondrial iron–sulfur protein biogenesis and human disease; Oliver Stehling, Claudia Wilbrecht, Roland Lill; Biochimie, Available online 23 January 2014. http://dx.doi.org/10.1016/j.biochi.2014.01.010

Keywords:Iron–sulfur cluster; Mitochondrial ISC system; Iron regulation; Genome integrity

Anaesthesia for orphan disease: combined spinal-epidural anaesthesia in a patient with Friedreich's ataxia

Anaesthesia for orphan disease: combined spinal-epidural anaesthesia in a patient with Friedreich's ataxia. Huercio, Iván; Guasch, Emilia; Brogly, Nicolas; Gilsanz, Fernando; European Journal of Anaesthesiology, January 21, 2014 - Volume Publish Ahead of Print - Issue - ppg
doi: 10.1097/EJA.0000000000000041

Optimizing Mouse Models of Neurodegenerative Disorders

Optimizing Mouse Models of Neurodegenerative Disorders. Future Neurology. Cathleen M Lutz, Melissa A Osborne; Future Neurology. 2014;9(1):67-75.

This experience in SMA raises interesting questions for FRDA. Does such a threshold also exist in FRDA models, where no or too low frataxin results in embryonic lethality, but levels of 10% or more result in mice that are phenotypcially normal? Can mice simply tolerate low levels of frataxin? Alternatively, perhaps FRDA is not just a disease of low frataxin protein, but insread is one in which the GAA repeat itself plays a greater role in the disease course, beyond just inhibiting transcription. Would mouse models of higher repeat length or uninterupted repeats produce a more robust phenotype? Additional FRDA models are desperately needed in order to help address these questions.

Repligen Announces Asset Purchase Agreement With BioMarin for HDACi Portfolio

Repligen Announces Asset Purchase Agreement With BioMarin for HDACi Portfolio. Company Release - 01/21/2014 07:30. WALTHAM, Mass., Jan. 21, 2014 (GLOBE NEWSWIRE)

Repligen Corporation announced today that it has entered into an asset purchase agreement with BioMarin Pharmaceutical Inc. ("BioMarin") to advance Repligen's histone deacetylase inhibitor (HDACi) portfolio. Includes Preclinical Compounds for Potential Treatment of Friedreich's Ataxia

Mammalian Fe–S cluster biogenesis and its implication in disease

Mammalian Fe–S cluster biogenesis and its implication in disease. Lena K. Beilschmidt, Hélène M. Puccio; Biochimie, Available online 16 January 2014. http://dx.doi.org/10.1016/j.biochi.2014.01.009

Keywords: Mitochondria; Iron–sulfur cluster; Genetic disease; Mutation.

A new technic for segmental spinal osteosynthesis using the posterior approach

A new technic for segmental spinal osteosynthesis using the posterior approach . Y. Cotrel, J. Dubousset; Orthopaedics & Traumatology: Surgery & Research, Available online 18 January 2014.DOI http://dx.doi.org/10.1016/j.otsr.2013.12.009

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Frataxin-bypassing Isu1: characterization of the bypass activity in cells and mitochondria

Frataxin-bypassing Isu1: characterization of the bypass activity in cells and mitochondria Yoon H, Knight SA, Pandey A, Pain J, Zhang Y, Pain D, Dancis A
The Biochemical Journal [2014].

Keywords: Frataxin, Fe-S cluster assembly, mitochondria, Isu scaffold proteins, heme proteins, iron homeostasis.

Production and application of polyclonal antibody against mouse frataxin

Production and application of polyclonal antibody against mouse frataxin. Hao S, Xu F, Li K.; (Chinese journal of biotechnology) Sheng Wu Gong Cheng Xue Bao. 2013 Sep;29(9):1313-22.

In a previous work showed that tissue-specific expression of FXN in cerebellum and heart generates two novel isoforms, This work provides a powerful tool for further research on mouse Fxn isoforms.

Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia

Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia; Evans-Galea MV, Lockhart PJ, Galea CA, Hannan AJ, Delatycki MB, Discovery Medicine [2014, 17(91):25-35]

A review about diverse array of molecular events that have been shown to influence clinical outcome in FRDA. The authors also examine additional pathogenic factors from other trinucleotide repeat diseases which could be potentially important in FRDA.

A Phase IIa Trial to Test Safety and Efficacy Interferon Gamma Treatment in Elevating Frataxin Levels in FRDA Patients

A Phase IIa Trial to Test Safety and Efficacy Interferon Gamma Treatment in Elevating Frataxin Levels in FRDA Patients. ClinicalTrials.gov

Sponsor: Azienda Policlinico Umberto I

The primary objective of this study is to investigate whether the treatment with IFN gamma can induce significant accumulation of frataxin in FRDA patients, a possibility suggested by pre-clinical evidence in an animal model of the disease.

Detailed Description:
This is a Phase 2 clinical trial. A total of 10 FRDA patients will be recruited All subjects will be treated with a dose of 100-150-200-micrograms of IFN gamma 1b (Imukin®) subcutaneously, with an interval of 14 days, for a total of 3 injections.