HSOP's Mouli Wins Most Outstanding At Auburn's Research Week

HSOP's Mouli Wins Most Outstanding At Auburn's Research Week. The Auburn pharmacist e-news, Auburn University. June 12, 2014

Currently she is developing novel drug strategies for increasing the transcriptional regulation of frataxin to mitigate the detrimental effects of Doxorubicin upon frataxin.

The Alteration of the C-terminal Region of Human Frataxin Distorts its Structural Dynamics and Function

The Alteration of the C-terminal Region of Human Frataxin Distorts its Structural Dynamics and Function. Santiago E. Faraj, Ernesto A. Roman, Martin Aran, Mariana Gallo and Javier Santos; FEBS Journal, Accepted manuscript online: 12 JUN 2014, DOI: 10.1111/febs.12869

In 5% of patients the typical GAA expansion is present in only one fxn allele and a missense mutation is found in the other allele. the disease course in these patients can be as severe as for patients with two expanded alleles.

The Alteration of the C-terminal Region of Human Frataxin Distorts its Structural Dynamics and Function in L198R mutant, or its complete truncation in FXN 81-193 causes FRDA.

SIRT3 regulates cellular iron metabolism and cancer growth by repressing iron regulatory protein 1

SIRT3 regulates cellular iron metabolism and cancer growth by repressing iron regulatory protein 1; S M Jeong, J Lee, L W S Finley, P J Schmidt, M D Fleming and M C Haigis; Oncogene advance online publication 9 June 2014; doi: 10.1038/onc.2014.124

The activity of SIRT3 is inhibited in frataxin-deficient heart, it may contribute to the cardiomyopathy in Friedreich’s ataxia. Friedreich’s ataxia cells exhibit an increased IRP1 activity and iron accumulation, thus, it will be interesting for future studies to examine the role of SIRT3 in systemic iron homeostasis and iron-related human diseases.

Autologous Stem Cell Transplant with Gene Therapy for Friedreich Ataxia

Autologous Stem Cell Transplant with Gene Therapy for Friedreich Ataxia; P.T. Naoki Tajiri, B.S. Meaghan Staples, Yuji Kaneko, Seung U. Kim, Theresa A. Zesiewic, Cesar V. Borlongan, Medical Hypotheses, Available online 9 June 2014, ISSN 0306-9877, http://dx.doi.org/10.1016/j.mehy.2014.05.022.

HDAC Inhibition Appears Safe in Early Trial on Friedreich's Ataxia

HDAC Inhibition Appears Safe in Early Trial on Friedreich's Ataxia, NEWS FROM THE AAN ANNUAL MEETING. Neurology Today:
5 June 2014 - Volume 14 - Issue 11 - p 46-47, doi: 10.1097/01.NT.0000451003.10471.a7

In a phase 1 trial, a histone deacetylase inhibitor appears to be safe and to increase expression of the frataxin gene in adult patients with Friedreich's ataxia.

Antioxidant targeting by deferiprone in diseases related to oxidative damage

Antioxidant targeting by deferiprone in diseases related to oxidative damage . Kontoghiorghe CN, Kolnagou A, Kontoghiorghes GJ.; Front Biosci (Landmark Ed). 2014 Jun 1;19:862-885. http://dx.doi.org/10.2741/4253

Keywords:antioxidant pharmaceuticals, free radical damage (FRD), Deferiprone (L1), iron overload, cardiomyopathy, acute kidney disease, Friedreich ataxia.

Myelin paucity of the superior cerebellar peduncle in individuals with Friedreich ataxia: an MRI magnetization transfer imaging study

Myelin paucity of the superior cerebellar peduncle in individuals with Friedreich ataxia: an MRI magnetization transfer imaging study. Louise A. Corben, Saman Rassaei Kashuk, Hamed Akhlaghi, Sharna Jamadar, Martin B. Delatycki, Joanne Fielding, Beth Johnson, Nellie Georgiou-Karistianis, Gary F. Egan, Journal of the Neurological Sciences, Available online 1 June 2014, ISSN 0022-510X, http://dx.doi.org/10.1016/j.jns.2014.05.057.

This is the first study to demonstrate reduced MTR in the SCP of individuals with FRDA when compared to control participants. These findings may reflect a process of disruption of the reciprocal relationship between oligodendrocytes and axons resulting in paucity of myelin, and provides significant new insight into the neurodegenerative pathology of FRDA

Photoinduced Transformation of Iron Chelator Deferiprone: Possible Implications in Drug Metabolism and Toxicity

Photoinduced Transformation of Iron Chelator Deferiprone: Possible Implications in Drug Metabolism and Toxicity. V.A. Timoshnikov, V.I. Klimentiev, N.E. Polyakov, G.J. Kontoghiorghes, Journal of Photochemistry and Photobiology A: Chemistry, Available online 2 June 2014, ISSN 1010-6030, http://dx.doi.org/10.1016/j.jphotochem.2014.05.012.

Thefindings suggest that high dose of sunlight might cause chemical modifications which may have chemical, biochemical, pharmacological and toxicological implications, especially possible undesirable phototoxic effects in patients undergoing treatment in countries with increased sunlight exposure.

C9orf72; abnormal RNA expression is the key

C9orf72; abnormal RNA expression is the key. Peter Heutink, Iris E. Jansen, Emily M. Lynes, Experimental Neurology, Available online 27 May 2014, ISSN 0014-4886, http://dx.doi.org/10.1016/j.expneurol.2014.05.020.

Despite differences with Friedreich's ataxia, hexanucleotide repeat instead of trinucleotide repeat...., it could be many points in common with the FA, as the loss of protein expression and toxic RNA species. It is interesting the authors's hypothesis about the mechanisms leading to pathology.

Low Bone Mineral Density in Friedreich Ataxia.

Low Bone Mineral Density in Friedreich Ataxia. Eigentler A1, Nachbauer W, Donnemiller E, Poewe W, Gasser RW, Boesch S.; Cerebellum. 2014 May 25. [Epub ahead of print]