Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function

Mitochondrion, Article in Press, Accepted Manuscript, doi:10.1016/j.mito.2010.12.003

Mary A. Selak a, Elise Lyver b, Elizabeth Micklow b, Eric C. Deutsch c, Ozlem Onder d, Nur Selamoglu d, Claire Yager a, Simon Knight b, Martin Carroll b, Fevzi Daldal d, Andrew Dancis b, David R. Lynch c and Jean-Emmanuel Sarry b,

a Children's Hospital of Philadelphia Research Institute, Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA, USA
b Division of Hematology/Oncology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
c Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine, and Children's Hospital of Philadelphia, Philadelphia, PA, USA
d Department of Biology, University of Pennsylvania, Philadelphia, PA, USA

KEYWORDS: Friedreich ataxia (FRDA), frataxin, neurons, cardiomyocytes, platelets, peripheral blood mononuclear cells, mitochondria, biomarkers.

Restless legs syndrome in Friedreich ataxia: A polysomnographic study

Movement Disorders, n/a. doi: 10.1002/mds.22769 (Early View (Articles online in advance of print)
Frauscher, B., Hering, S., Högl, B., Gschliesser, V., Ulmer, H., Poewe, W. and Boesch, S. M.

Keywords: sleep disturbance, restless legs syndrome, Friedreich ataxia, Frataxin, ferritin, periodic leg movements, polysomnography.

US reviews human trial participant protections

The Lancet, Volume 376, Issue 9757, Pages 1975 - 1976, 11 December 2010, doi:10.1016/S0140-6736(10)62247-7

Nellie Bristol

Commission Chair Amy Gutmann, President of the University of Pennsylvania stated. “We have an ethical obligation to protect the health and well-being of all research participants.”

Electrophysiology of Respiratory Chain Complexes and the ADP-ATP Exchanger in Native Mitochondrial Membranes.

Biochemistry. 2010 Dec 7;49(48):10308-18. Epub 2010 Nov 11.

Watzke N, Diekert K, Obrdlik P.
IonGate Biosciences GmbH, Industriepark Hoechst, D528, 65926 Frankfurt am Main, Germany.

Keywords: mitochondrial membranes, proton-pumping respiratory chain complexes, mitochondrial secondary active solute transport proteins, solid-supported membrane (SSM) technology, respiratory chain complexes CI, CII, CIII, and CIV, the F(O)F(1)-ATPase/synthase (CV), the adenine nucleotide translocase (ANT), oxidative phosphorylation (OXPHOS), uncoupler carbonyl cyanide m-chlorophenylhydrazone (CCCP), IC(50), Coenzyme Q (CoQ), decylubiquinone (DBQ), idebenone (Ide).

Axial diffusivity is increased in the degenerating superior cerebellar peduncles of Friedreich's ataxia.

Neuroradiology. 2010 Dec 3. [Epub ahead of print]

Della Nave R, Ginestroni A, Diciotti S, Salvatore E, Soricelli A, Mascalchi M., S. Giuseppe Hospital, Radiodiagnostic Section, Empoli, Italy.

Keywords: Decreased fractional anisotropy (FA), diffusion tensor MR imaging (DTI), white matter (WM), radial diffusivity, axial diffusivity, Friedreich's ataxia (FRDA), selective neuronal loss, dentate nuclei, cerebellar peduncles (SCPs), TBSS analysis.

Large-scale in silico modeling of metabolic interactions between cell types in the human brain

Nature Biotechnology, Year published:(2010), DOI: doi:10.1038/nbt.1711

Nathan E Lewis, Gunnar Schramm, Aarash Bordbar, Jan Schellenberger, Michael P Andersen, Jeffrey K Cheng, Nilam Patel, Alex Yee, Randall A Lewis, Roland Eils, Rainer König, Bernhard Ø Palsson.

Keywords: Metabolic interactions, gene expression data, proteomics data, literature-based manual curation, model human metabolism, metabolites, interstitial fluid, models of brain energy metabolism, astrocytes, Alzheimer's disease, regions of the brain.

Simplest explanation: Metabolism Models May Explain Why Alzheimer's Disease Kills Some Neuron Types First (ScienceDaily (Dec. 6, 2010)

Taking the lottery out of gene therapy

NEW SCIENTIST HEALTH ,Magazine issue 2789

GENE therapy should become a more exact science thanks to the discovery that it is possible to predict where a transferred gene is likely to be inserted into the recipient's DNA.

"Peter Cherepanov at Imperial College London, who was not part of the team, says now that the probability of an undesirable insertion can be estimated, it will become easier to balance the chance of success with the risk of side effects."

ORIGINAL PAPER: Deciphering the Code for Retroviral Integration Target Site Selection

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Catalysis and Mechanistic Insights into Sirtuin Activation.

Chembiochem. 2010 Nov 9. [Epub ahead of print]

 Dittenhafer-Reed KE, Feldman JL, Denu JM.

Department of Biomolecular Chemistry, School of Medicine and Public Health, University of Wisconsin-Madison.

Keywords:  SIRT1, resveratrol,  SRT1720, mechanism by which they activate remains poorly defined,  type II diabetes, neurodegeneration, diseases associated with aging.

Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells

J Biol Chem. 2010 Dec 2. [Epub ahead of print]

Kumari D, Biacsi RE, Usdin K., NIH, United States.

Keywords: Expansion of a GAA·TTC-repeat, first intron, frataxin (FXN) gene, mRNA deficit, Friedreich ataxia (FRDA), DNA methylation, histone modifications, chromatin immuno-precipitation, chromatin, RNA polymerase II, histone H3 trimethylated on lysine 4, trimethylated H3K36.

Accelerating orphan drug development

Nature Reviews Drug Discovery 9, 901-902 (December 2010) | doi:10.1038/nrd3340

Timothy R. Coté, Kui Xu & Anne R. Pariser

"Given the limited resources available for rare disease R&D, it is imperative that all knowledge gained is used to maximum benefit at each phase.
The FDA is committed to accelerating orphan drug development through a regulatory system built on integrity, consistency and transparency; a system that has delivered benefits to people who desperately need them and promises to deliver much more."