Specialized Cortex Glial Cells Accumulate Lipid Droplets in Drosophila melanogaster.

Specialized Cortex Glial Cells Accumulate Lipid Droplets in Drosophila melanogaster. Viktor Kis,* Benjámin Barti, Mónika Lippai, and Miklós Sass; PLoS One. 2015; 10(7): e0131250.
Published online 2015 July 6. doi: 10.1371/journal.pone.0131250 OPEN ACCESS

While a large portion of the Drosophila neurodegeneration mutants (bubblegum, swiss cheese, loechrig, ApoD, frataxin, sicily) [19–23] affect lipid metabolism and disturb LD homeostasis, neither the cellular, nor the spatio-temporal distribution of LDs has been described to date in Drosophila. In this paper, we used the brain of the fruitfly to study lipid droplet anatomy in the larval nervous system.

Oxidative Stress and the Homeodynamics of Iron Metabolism

Oxidative Stress and the Homeodynamics of Iron Metabolism. Nikolaus Bresgen and Peter M. Eckl; Biomolecules 2015, 5(2), 808-847; doi:10.3390/biom5020808

In conclusion, cellular iron homeodynamics is based on a well-orchestrated interaction of iron uptake, intracellular transport, iron storage, usage and export, which is embedded in cellular metabolic and surveillance control. Under stress conditions, this orchestration changes in order to maintain homeodynamics and protect the cell from severe destabilization.

Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients

Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients. Agessandro Abrahao, Jose Luiz Pedroso, Patricia de Carvalho Aguiar and Orlando Barsottini; Neurology April 6, 2015 vol. 84 no. 14 Supplement P2.122

We found a robust downregulation of FXN, but no statistically significant differences were found between FRDA and controls for the remaining genes. Except for FXN, our study did not find a differential gene expression profile in PBCs of FRDA patients and a reliable gene expression profile biomarker obtained from an easily accessible tissue remains unclear.

Clinical Trial: Biomarkers in Friedreich's Ataxia

Clinical Trial: Biomarkers in Friedreich's Ataxia ClinicalTrials.gov Identifier: NCT02497534. First received: July 7, 2015

Sponsor: University of Florida

The purpose of this project is to characterize measures of cardiac performance and neuromuscular physiology in FA patients using novel techniques, including echocardiography and magnetic resonance imaging (MRI), metabolic exercise testing, and neurophysiological outcomes.

This study is not yet open for participant recruitment.

Regional Cerebral Disease Progression in Friedreich's Ataxia: A Longitudinal Diffusion Tensor Imaging Study

Regional Cerebral Disease Progression in Friedreich's Ataxia: A Longitudinal Diffusion Tensor Imaging Study. Mascalchi, M., Toschi, N., Giannelli, M., Ginestroni, A., Della Nave, R., Tessa, C., Piacentini, S., Dotti, M. T., Aiello, M., Nicolai, E., Soricelli, A., Salvi, F. and Diciotti, S., Journal of Neuroimaging.(2015) doi: 10.1111/jon.12270

DTI can track brain microstructural changes in FRDA and can be considered a potential biomarker of disease progression.

Science Heroes: Annalisa Pastore: A love story with the double helix that started at 17

Science Heroes: Annalisa Pastore: A love story with the double helix that started at 17. Frontiers Blog, Posted on July 14, 2015

This led her to—at least partially— identify the role of the protein, resulting from the expression of frataxin, in the disease mechanism. These findings could ultimately open the door to designing a new strategy to treat Friedreich’s ataxia, and other neurodegenerative diseases.

Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism.

Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism. Rikke K. J. Olsen, Nanna Cornelius, and Niels Gregersen; J Inherit Metab Dis. 2015; 38(4): 703–719.
Published online 2015 May 30. doi: 10.1007/s10545-015-9861-5

Springer OPEN Choice

Based on our own and other’s studies we re-introduce the ROS triangle model and discuss how inborn errors of mitochondrial metabolism, by production of pathological amounts of ROS, may cause disturbed redox signalling and induce chronic cell stress with non-resolving or compromised cell repair responses and increased susceptibility to cell stress induced cell death.

TORC1 Inhibition by Rapamycin Promotes Antioxidant Defences in a Drosophila Model of Friedreich’s Ataxia

TORC1 Inhibition by Rapamycin Promotes Antioxidant Defences in a Drosophila Model of Friedreich’s Ataxia. Pablo Calap-Quintana, Sirena Soriano, José Vicente Llorens, Ismael Al-Ramahi, Juan Botas, María Dolores Moltó, María José Martínez-Sebastián; PLoS ONE 10(7): e0132376. doi:10.1371/journal.pone.0132376

OPEN ACCESS

We found that genetic reduction in TOR Complex 1 (TORC1) signalling improves the impaired motor performance phenotype of FRDA model flies. Pharmacologic inhibition of TORC1 signalling by rapamycin also restored this phenotype and increased the lifespan and ATP levels. These results point to the TORC1 pathway as a new potential therapeutic target for FRDA and as a guide to finding new promising molecules for disease treatment.

Familial segmental spinal myoclonus: a rare clinical feature of Friedreich’s ataxia

Familial segmental spinal myoclonus: a rare clinical feature of Friedreich’s ataxia. Rajendra Singh Jain, Sunil Kumar and Shankar Tejwani, SpringerPlus 2015, 4:330 doi:10.1186/s40064-015-1121-5

OPEN ACCESS


Spinal segmental myoclonus (SSM) is a unique and rare manifestation of FRDA. This might be the first case report of SSM in FRDA patient.

Dynamics in the sense of dignity over the course of illness: A longitudinal study into the perspectives of seriously ill patients

Dynamics in the sense of dignity over the course of illness: A longitudinal study into the perspectives of seriously ill patients. Isis E. van Gennip, H. Roeline W. Pasman, Mariska G. Oosterveld-Vlug, Dick L. Willems, Bregje D. Onwuteaka-Philipsen; International Journal of Nursing Studies, Available online 27 June 2015, ISSN 0020-7489, http://dx.doi.org/10.1016/j.ijnurstu.2015.06.010.