Saturday, February 9, 2013

Hypoxia inducible factor prolyl hydroxylases as targets for neuroprotection by “antioxidant” metal chelators: From ferroptosis to stroke

Hypoxia inducible factor prolyl hydroxylases as targets for neuroprotection by “antioxidant” metal chelators: From ferroptosis to stroke. Rachel E. Speer, Saravanan S. Karuppagounder, Manuela Basso, Sama Sleiman, Amit Kumar, David Brand, Natalya Smirnova, Irina Gazaryan, Soah J. Khim, Rajiv R. Ratan. Free Radical Biology and Medicine, Available online 31 January 2013. http://dx.doi.org/10.1016/j.freeradbiomed.2013.01.026

Keywords: Metal chelators, Neurodegeneration, Hypoxia inducible factors, Transcription, Prolyl hydroxylases.

See also:
Frataxin participates to the hypoxia-induced response in tumors
Neuroprotective Multifunctional Iron Chelators: From Redox-Sensitive Process to Novel Therapeutic Opportunities

Mesenchymal stem cells exert a remarkable regenerative effect requiring minimal CNS integration

Mesenchymal stem cells exert a remarkable regenerative effect requiring minimal CNS integration. Antonio Uccelli, Experimental Neurology, Available online 4 February 2013.

The concept of repair of the nervous system by adult stem cells has recently evolved from the original hypothesis that tissue regeneration could have been achieved through stem cells differentiation into neural cells to the current vision that they act mainly by means of paracrine mechanisms. Is preferable the stem cells transplantation or the administration of their secreted factors?.

Keywords: Mesenchymal stem cells, microglia, chemokines, neuroprotection, immunomodulation

The epidemiology of intermittent and chronic ataxia in children in Manitoba, Canada

The epidemiology of intermittent and chronic ataxia in children in Manitoba, Canada. Michael S Salman, Esther J Lee, Anindita Tjahjadi and Bernard N Chodirker. Developmental Medicine & Child Neurology, Article first published online: 7 FEB 2013 | DOI: 10.1111/dmcn.12081

Keywords: retrospective study, age 0–16y, from 1991 to 2008, 184 patients, Angelman syndrome (n=16), ataxia telangiectasia (n=13), mitochondrial disease (n=9), Friedreich ataxia (n=7), stroke (n=7), familial/genetic episodic ataxia (n=7).

Friday, February 8, 2013

The Reciprocal Cerebellar Circuitry in Human Hereditary Ataxia.

The Reciprocal Cerebellar Circuitry in Human Hereditary Ataxia. Koeppen AH, Ramirez RL, Bjork ST, Bauer P, Feustel PJ.. Cerebellum. 2013 Feb 7. [Epub ahead of print].

Keywords: spinocerebellar ataxias (SCA), Friedreich's ataxia (FRDA), central and peripheral nervous systems, "reciprocal cerebellar circuitry", Purkinje cells, dentate nuclei (DN), inferior olivary nuclei (ION).

Orthobullets: Friedreich's Ataxia

Friedreich's Ataxia, orthobullets.
Author: Derek Moore MD,

Thursday, January 31, 2013

Genetic Variations Creating MicroRNA Target Sites in the FXN 3′-UTR Affect Frataxin Expression in Friedreich Ataxia.

Genetic Variations Creating MicroRNA Target Sites in the FXN 3′-UTR Affect Frataxin Expression in Friedreich Ataxia. Simonetta Bandiera ,François Cartault, Anne-Sophie Jannot, Elie Hatem, Muriel Girard, Laila Rifai, Clemence Loiseau, Arnold Munnich, Stanislas Lyonnet, Alexandra Henrion-Caude. (2013)PLoS ONE 8(1): e54791. doi:10.1371/journal.pone.0054791

We found that this FRDA 3′-UTR conferred a 1.2-fold decrease in the expression of a reporter gene versus the alternative haplotype configuration. We established that differential targeting by miRNA could account for this functional variability. We specifically demonstrated the involvement of miR-124 (i.e hsa-mir-124-3p) in the down-regulation of FRDA-3′-UTR. Our results suggest for the first time that post-transcriptional regulation of frataxin occurs through the 3′-UTR and involves miRNA targeting. We propose that the involvement of miRNAs in a FRDA-specific regulation of frataxin may provide a rationale to increase residual levels of frataxin through miRNA-inhibitory molecules.

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Wednesday, January 30, 2013

Friedreich Ataxia Global Clinical Trials Review, H1, 2013

Friedreich Ataxia Global Clinical Trials Review, H1, 2013.

This report provides elemental information and data relating to the clinical trials on Friedreich Ataxia. It includes an overview of the trial numbers and their recruitment status as per the site of trial conduction across the globe.

The role of aberrant mitochondrial bioenergetics in diabetic neuropathy.

The role of aberrant mitochondrial bioenergetics in diabetic neuropathy. Chowdhury SK, Smith DR, Fernyhough P; Neurobiology of Disease [2013, 51:56-65]

The role of mitochondrial dysfunction in the etiology of diabetic neuropathy is compared with other types of neuropathy with a distal dying-back pathology such as Friedreich ataxia, Charcot-Marie-Tooth disease type 2 .....

Rating disease progression of Friedreich’s ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database

Rating disease progression of Friedreich’s ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database . Günther Metz, Nicholas Coppard, Jonathon M. Cooper, Martin B. Delatycki, Alexandra Dürr, Nicholas A. Di Prospero, Paola Giunti, David R. Lynch8, J. B. Schulz, Christian Rummey and Thomas Meier. Brain (2013) 136 (1): 259-268. doi: 10.1093/brain/aws309

Keywords: cross-sectional study, disease progression in Friedreich’s ataxia, International Cooperative Ataxia Rating Scale, function of disease duration, age of onset, GAA repeat lengths.

Subvention importante

Subvention importante . CAFA, Canadian Association for Familial Ataxias - Claude St-Jean Foundation.

Professor Jacques P. Tremblay and his team at the CHUL laboratory in Quebec has just received a grant of $ 160,000 from the Canadian Institutes of Health Research (CIHR) for the project of inducing the production of frataxin with TALE-VP64 targeting the promoter of this protein. This will help to intensify research on Friedreich's ataxia.