Mechanism elucidated for a rare disease

May 04 2010 
Scientists at the Friedrich Miescher Institute for Biomedical Research (FMI, part of the Novartis Research Foundation) have dissected one of the molecular mechanisms underlying Friedreich's ataxia. In doing so, they have shed new light on the pathogenic mechanism of the disease. These findings could lead to the development of new therapeutic approaches for what is, as yet, an incurable condition. The results of the study were recently published in the journal EMBO Molecular Medicine. 

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Caenorhabditis elegans as a model system to study intercompartmental proteostasis: Interrelation of mitochondrial function, longevity, and neurodegenerative diseases

Dev Dyn. 2010 May;239(5):1529-38. DOI 10.1002/dvdy.22292

Janine Kirstein-Miles, Richard I. Morimoto ^*
Department of Biochemistry, Molecular Biology and Cell Biology, Rice Institute for Biomedical Research, Northwestern University, Evanston, Illinois

Keywords:  proteostasis, eukaryotic cell,  mitochondria, cellular metabolism, organismal development,  lifespan,  neurodegenerative diseases, Friedreich's ataxia, Parkinson's disease.

Spinocerebellar ataxia: Patient and health professional perspectives on whether and how patents affect access to clinical genetic testing

Genetics in Medicine:

April 2010 - Volume 12 - Issue 4 - pp S83-S110

doi: 10.1097/GIM.0b013e3181d67e44

From the ¹Center for Public Genomics, Center for Genome Ethics, Law and Policy, Institute of Genome Sciences and Policy, Duke University, Curriculum in Neurobiology, University of North at Carolina Chapel Hill, Center for Genomics and Society at the University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; and ²Center for Genome Ethics, Law and Policy, Institute for Genome Sciences and Policy, Duke University, Durham, North Carolina.

Robert Cook-Deegan, MD, Center for Genome Ethics, Law and Policy, Institute for Genome Sciences and Policy, Duke University, Box 90141, Durham, NC 27708. 

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Friedreich's Ataxia Cardiomyopathy: Case Based Discussion and Management Issues

Irish Medical Journal,  IMJ Online Paper.

A Hanley, R Corrigan, S Mohammad, B MacMahon
Monaghan General Hospital, Co Monaghan

Keywords: Cardiac involvement, Friedreich’s Ataxia, The most common symptoms are shortness of breath at rest and palpitations, ejection systolic murmur, heart sound, ECG abnormalities, Echo abnormalities, idebenone, Beta blockers, ACE inhibitors.

Effects of Long-Term Pioglitazone Treatment on Peripheral and Central Markers of Aging

"Currently in France is running a trial with Pioglitazone . Although the subject matter of the article is not about the FA, get more information about this drug is interesting."

OPEN ACCES

PLoS ONE 5(4): e10405. doi:10.1371/journal.pone.0010405

Eric M. Blalock^1#, Jeremiah T. Phelps^1#, Tristano Pancani¹, James L. Searcy¹, Katie L. Anderson¹, John C. Gant¹, Jelena Popovic¹, Margarita G. Avdiushko², Don A. Cohen², Kuey-Chu Chen¹, Nada M. Porter¹, Olivier Thibault^1*

1 Department of Molecular and Biomedical Pharmacology, University of Kentucky Medical Center, Lexington, Kentucky, United States of America, 2 Department of Microbiology and Immunology, University of Kentucky Medical Center, Lexington, Kentucky, United States of America

Abstract

Thiazolidinediones (TZDs) activate peroxisome proliferator-activated receptor gamma (PPARγ) and are used clinically to help restore peripheral insulin sensitivity in Type 2 diabetes (T2DM). Interestingly, long-term treatment of mouse models of Alzheimer's disease (AD) with TZDs also has been shown to reduce several well-established brain biomarkers of AD including inflammation, oxidative stress and Aβ accumulation. While TZD's actions in AD models help to elucidate the mechanisms underlying their potentially beneficial effects in AD patients, little is known about the functional consequences of TZDs in animal models of normal aging. Because aging is a common risk factor for both AD and T2DM, we investigated whether the TZD, pioglitazone could alter brain aging under non-pathological conditions.

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Carbamylated erythropoietin increases frataxin independent from the erythropoietin receptor

European Journal of Clinical Investigation, Early View (Articles online in advance of print), Published Online: 28 Apr 2010
BRIEF COMMUNICATION

Brigitte Sturm*, Melissa Helminger*, Hannes Steinkellner*, Mohammad Mehdi Heidari*,†, Hans Goldenberg* and Barbara Scheiber-Mojdehkar*
*Medical University of Vienna, Vienna, Austria , † Yazd University, Yazd, Iran

KEYWORDS: Carbamylated erythropoietin • erythropoietin receptor • frataxin • Friedreich's ataxia • nonerythropoietic erythropoietin • recombinant human erythropoietin

Dysarthria in Friedreich's Ataxia: A Perceptual Analysis.

Folia Phoniatr Logop. 2010;62(3):97-103. Epub 2010 Apr 29.

Folker J, Murdoch B, Cahill L, Delatycki M, Corben L, Vogel A.

The University of Queensland, Brisbane, Qld., Australia.

Keywords: speech intelligibility,  dysarthria severity,  Friedreich's ataxia (FRDA), clinical factors.

'Epigenetic' Concepts Offer New Approach To Degenerative Disease

Medical News Today, Article Date: 28 Apr 2010 - 5:00 PDT

In studies on cancer, heart disease, neurological disorders and other degenerative conditions, some scientists are moving away from the "nature versus nurture" debate, and are finding you're not a creature of either genetics or environment, but both - with enormous implications for a new approach to health.  read more

Molecular Perspective Review of Biochemical Role of Nucleobases Modified by Oxidative Stress

COMPUTATIONAL METHODS IN SCIENCE AND TECHNOLOGY 16(1), XX-XX (2010)

Piotr Cysewski1,2
1 Department of Physical Chemistry, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń,
ul. Kurpińskiego 5, 85-950 Bydgoszcz, Poland
2Department of General Chemistry, University of Technology and Life Sciences in Bydgoszcz,
ul. Seminaryjna 3, 85-326 Bydgoszcz, Poland

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"Examples of cancer and non-cancer diseases, for which elevated levels of hydroxyl radical nucleobases were reported [12-15]. : .../... Elevated level in chromatin hydrolysates  (GA) in Friedreich' ataxia"

Folate regulation of axonal regeneration in the rodent central nervous system through DNA methylation

J Clin Invest. doi:10.1172/JCI40000.

Bermans J. Iskandar¹, Elias Rizk¹, Brenton Meier¹, Nithya Hariharan¹, Teodoro Bottiglieri², Richard H. Finnell³, David F. Jarrard⁴, Ruma V. Banerjee⁵, J.H. Pate Skene⁶, Aaron Nelson¹, Nirav Patel¹, Carmen Gherasim⁵, Kathleen Simon¹, Thomas D. Cook⁷ and Kirk J. Hogan⁸

¹Department of Neurological Surgery, University of Wisconsin, Madison, Wisconsin, USA.
²Baylor Research Institute, Institute of Metabolic Disease, Dallas, Texas, USA.
³Texas Institute for Genomic Medicine, Houston, Texas, USA.
⁴Department of Surgery, University of Wisconsin, Madison, Wisconsin, USA.
⁵Department of Biological Chemistry, University of Michigan, Ann Arbor, Michigan, USA.
⁶Department of Neurobiology, Duke University Medical Center, Durham, North Carolina, USA.
⁷Department of Biostatistics and
⁸Department of Anesthesiology, University of Wisconsin, Madison, Wisconsin, USA. 

 Keywords: folate supplementation, neurodegenerative and neuropsychiatric disorders, afferent spinal neurons, DNA methylation, axonal regeneration, epigenetic mechanism contributing to neurorepair, promote regeneration.

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See the related Commentary:

J. Clin. Invest. doi:10.1172/JCI40764.

Neuronal injury: folate to the rescue?

Golo Kronenberg, Matthias Endres