J Neurol Neurosurg Psychiatry 2012;83:e1 doi:10.1136/jnnp-2011-301993.43
C Albertyn, N Austin, R P Murphy
Adelaide and Meath Hospital, Dublin, Ireland
Keywords: Friedreich's ataxia (FRDA), cognitive function, genetically confirmed FRDA patients, age of onset, duration of symptoms, Friedreich's ataxia rating scale (FARS) score, neuropsychological test battery assessed immediate and delayed verbal memory, visuospatial perception, confrontational naming, non-verbal memory, attention and concentration, premorbid intellect, executive function, cognitive speed.
Friday, February 10, 2012
Determination of Idebenone in Plasma by HPLC with Post -Column Fluorescence Derivatization using 2-Cyanoacetamide
Chem Pharm Bull, Regular Article, Analytical Chemistry
Yukio NOHARA a, Junko SUZUKI b, Yoji YAMAZAKI a, Hiroaki KUBO a.
a Faculty of Pharmacy, Iwaki Meisei University, Iwaki, Fukushima 970-8551, Japan
b School of Pharmacy, Kitasato University, Minato-ku, Tokyo 108-8641, Japan
Keywords: Idebenone, Friedreich’s ataxia, 2-cyanoacetamide, fluorescence, HPLC with post-column fluorescence derivatization, human blood plasma, finger prick.
Yukio NOHARA a, Junko SUZUKI b, Yoji YAMAZAKI a, Hiroaki KUBO a.
a Faculty of Pharmacy, Iwaki Meisei University, Iwaki, Fukushima 970-8551, Japan
b School of Pharmacy, Kitasato University, Minato-ku, Tokyo 108-8641, Japan
Keywords: Idebenone, Friedreich’s ataxia, 2-cyanoacetamide, fluorescence, HPLC with post-column fluorescence derivatization, human blood plasma, finger prick.
Monday, February 6, 2012
New website: NIH Clinical Research Trials and You
The National Institutes of Health has created a new website, NIH Clinical Research Trials and You to help people learn more about clinical trials, why they matter, and how to participate.
GO to the new website
GO to the new website
Friday, February 3, 2012
A Drosophila Model of Friedreich's Ataxia and Autophagic Heart Disease.
Wayne State Univ, ?.
Luan Wang. Inst Environmental Hlth Sci, Wayne State Univ, Detroit, MI.
Keywords: Friedreich’s Ataxia (FRDA), Drosophila model for FRDA, UAS-Gal4 system, heart (tinman), neurons (elav), whole body (actin and daG32), reactive oxygen species (ROS) reagent, oxidative stress, autophagy activity.
"This suggests that there is a threshold for frataxin level to maintain the normal function."
Luan Wang. Inst Environmental Hlth Sci, Wayne State Univ, Detroit, MI.
Keywords: Friedreich’s Ataxia (FRDA), Drosophila model for FRDA, UAS-Gal4 system, heart (tinman), neurons (elav), whole body (actin and daG32), reactive oxygen species (ROS) reagent, oxidative stress, autophagy activity.
"This suggests that there is a threshold for frataxin level to maintain the normal function."
Thursday, February 2, 2012
OX1 for Friedreich's Ataxia likely would enter Phase 2 clinical trials early in 2013
NEW YORK, Feb.2, 2012 /PRNewswire/ --Intellect Neurosciences, Inc. (OTCBB:ILNS), a biopharmaceutical company engaged in the discovery and development of disease-modifying therapeutic agents for the treatment of Alzheimer's and other neurological diseases today issued the following Letter to Shareholders from Dr. Daniel Chain, Chairman and CEO.
ViroPharma's CEO, spoke enthusiastically about his company's plans to develop OX1 for Friedreich's Ataxia, indicating OX1 likely would enter Phase 2 clinical trials early in 2013.
ViroPharma's CEO, spoke enthusiastically about his company's plans to develop OX1 for Friedreich's Ataxia, indicating OX1 likely would enter Phase 2 clinical trials early in 2013.
Drugs and mitochondrial diseases: 40 queries and answers
Expert Opinion on Pharmacotherapy 0 0:0, 1-17, Posted online on January 31, 2012. (doi:10.1517/14656566.2012.657177)
Michelangelo Mancuso †1 MD PhD, Daniele Orsucci 1, Massimiliano Filosto 2, Costanza Simoncini 1 & Gabriele Siciliano 1
1 University of Pisa, Neurological Clinic, Department of Neuroscience,
Via Roma 67, 56126 Pisa, Italy
2 University of Brescia, Italy
Keywords
carnitine, coenzyme Q10, creatine, mitochondria, mitochondrial diseases, mtDNA, riboflavin, Mitochondrial disorders, oxidative phosphorylation, respiratory chain cofactors, antioxidants, lactic acidosis, basic and clinical literature.
Michelangelo Mancuso †1 MD PhD, Daniele Orsucci 1, Massimiliano Filosto 2, Costanza Simoncini 1 & Gabriele Siciliano 1
1 University of Pisa, Neurological Clinic, Department of Neuroscience,
Via Roma 67, 56126 Pisa, Italy
2 University of Brescia, Italy
Keywords
carnitine, coenzyme Q10, creatine, mitochondria, mitochondrial diseases, mtDNA, riboflavin, Mitochondrial disorders, oxidative phosphorylation, respiratory chain cofactors, antioxidants, lactic acidosis, basic and clinical literature.
Nrf2 and oxidative stress protection
Role of nuclear factor (erythroid-derived 2)-like 2 in metabolic homeostasis
and insulin action: A novel opportunity for diabetes treatment?
World J Diabetes. 2012 January 15; 3(1): 19-28.
Published online 2012 January 15. doi: 10.4239/wjd.v3.i1.19.
FULL TEXT PDF
Zhi-Wen Yu, Dan Li, Wen-Hua Ling and Tian-Ru Jin.
Zhi-Wen Yu, Dan Li, Wen-Hua Ling, Tian-Ru Jin, Guandong Provincial Key
Laboratory of Food, Nutrition and Health, Department of Nutrition, Public
Health Institute, Sun Yat-Sen University, Guangzhou 510080, Guangdong
Province, China
Tian-Ru Jin, Division of Cell and Molecular Biology, Toronto General
Research Institute, University Health Network, Toronto M5G 1L7, Canada
"As the major cellular defense machinery against oxidative stress, the Nrf2
system has drawn extensive attention. However, its functional alteration in
metabolic diseases has been realized recently and needs to be explored
further. Impaired Nrf2 function is evident in several pathological
conditions, such as aging, neurodegeneration diseases and insulin
resistance, that are mechanistically linked to oxidative stress, while Nrf2
activation reverses the functional abnormality of these diseases"
Nrf2, a Guardian of Healthspan and Gatekeeper of Species Longevity
Integr. Comp. Biol. (2010) doi: 10.1093/icb/icq034
Kaitlyn N. Lewis*†‡, James Mele†‡, John D. Hayes§ and Rochelle Buffenstein1,*†‡
*Department of Cellular and Structural Biology, University of Texas
Health Science Center at San Antonio, 15355 Lambda Drive, STCBM 2.2, San
Antonio TX 78245, USA; †Department of Physiology, University of Texas Health
Science Center at San Antonio, 15355 Lambda Drive, STCBM 2.2, San Antonio TX
78245, USA; ‡Sam and Anne Barshop Institute for Aging and Longevity Studies,
University of Texas Health Science Center at San Antonio, 15355 Lambda
Drive, STCBM 2.2, San Antonio TX 78245, USA; §Biomedical Research Centre,
University of Dundee, Dundee DD1 9SY, Scotland, UK
"The Nrf2-signaling pathway mediates multiple avenues of cytoprotection by activating the transcription of more than 200 genes that are crucial in the metabolism of drugs and toxins, protection against oxidative stress and inflammation, as well as playing an integral role in stability of proteins and in the removal of damaged proteins via proteasomal degradation or autophagy. Nrf2 interacts with other important cell regulators such as tumor suppressor protein 53 (p53) and nuclear factor-kappa beta (NF-κB) and through their combined interactions is the guardian of healthspan, protecting against many age-related diseases including cancer and neurodegeneration."
FULL TEXT PDF
Genetic activation of Nrf2 signaling is sufficient to ameliorate
neurodegenerative phenotypes in a Drosophila model of Parkinson’s disease.
Dis Model Mech. 2011 September; 4(5): 701–707.
Published online 2011 June 30. doi: 10.1242/dmm.007575
Maria Cecilia Barone,1 Gerasimos P. Sykiotis,2 and Dirk Bohmann1*
1Department of Biomedical Genetics, University of Rochester Medical Center,
Rochester, NY 14642, USA
2Division of Endocrinology, Department of Internal Medicine and Department
of Pharmacology, University of Patras Medical School, Patras 26500, Greece
"The transcription factor Nrf2, a conserved global regulator of cellular antioxidant responses, has been implicated in neuroprotection against PD pathology."
"Our data validate the sustained upregulation of the Nrf2 pathway as a neuroprotective strategy against PD."
FULL TEXT PDF
and insulin action: A novel opportunity for diabetes treatment?
World J Diabetes. 2012 January 15; 3(1): 19-28.
Published online 2012 January 15. doi: 10.4239/wjd.v3.i1.19.
FULL TEXT PDF
Zhi-Wen Yu, Dan Li, Wen-Hua Ling and Tian-Ru Jin.
Zhi-Wen Yu, Dan Li, Wen-Hua Ling, Tian-Ru Jin, Guandong Provincial Key
Laboratory of Food, Nutrition and Health, Department of Nutrition, Public
Health Institute, Sun Yat-Sen University, Guangzhou 510080, Guangdong
Province, China
Tian-Ru Jin, Division of Cell and Molecular Biology, Toronto General
Research Institute, University Health Network, Toronto M5G 1L7, Canada
"As the major cellular defense machinery against oxidative stress, the Nrf2
system has drawn extensive attention. However, its functional alteration in
metabolic diseases has been realized recently and needs to be explored
further. Impaired Nrf2 function is evident in several pathological
conditions, such as aging, neurodegeneration diseases and insulin
resistance, that are mechanistically linked to oxidative stress, while Nrf2
activation reverses the functional abnormality of these diseases"
Nrf2, a Guardian of Healthspan and Gatekeeper of Species Longevity
Integr. Comp. Biol. (2010) doi: 10.1093/icb/icq034
Kaitlyn N. Lewis*†‡, James Mele†‡, John D. Hayes§ and Rochelle Buffenstein1,*†‡
*Department of Cellular and Structural Biology, University of Texas
Health Science Center at San Antonio, 15355 Lambda Drive, STCBM 2.2, San
Antonio TX 78245, USA; †Department of Physiology, University of Texas Health
Science Center at San Antonio, 15355 Lambda Drive, STCBM 2.2, San Antonio TX
78245, USA; ‡Sam and Anne Barshop Institute for Aging and Longevity Studies,
University of Texas Health Science Center at San Antonio, 15355 Lambda
Drive, STCBM 2.2, San Antonio TX 78245, USA; §Biomedical Research Centre,
University of Dundee, Dundee DD1 9SY, Scotland, UK
"The Nrf2-signaling pathway mediates multiple avenues of cytoprotection by activating the transcription of more than 200 genes that are crucial in the metabolism of drugs and toxins, protection against oxidative stress and inflammation, as well as playing an integral role in stability of proteins and in the removal of damaged proteins via proteasomal degradation or autophagy. Nrf2 interacts with other important cell regulators such as tumor suppressor protein 53 (p53) and nuclear factor-kappa beta (NF-κB) and through their combined interactions is the guardian of healthspan, protecting against many age-related diseases including cancer and neurodegeneration."
FULL TEXT PDF
Genetic activation of Nrf2 signaling is sufficient to ameliorate
neurodegenerative phenotypes in a Drosophila model of Parkinson’s disease.
Dis Model Mech. 2011 September; 4(5): 701–707.
Published online 2011 June 30. doi: 10.1242/dmm.007575
Maria Cecilia Barone,1 Gerasimos P. Sykiotis,2 and Dirk Bohmann1*
1Department of Biomedical Genetics, University of Rochester Medical Center,
Rochester, NY 14642, USA
2Division of Endocrinology, Department of Internal Medicine and Department
of Pharmacology, University of Patras Medical School, Patras 26500, Greece
"The transcription factor Nrf2, a conserved global regulator of cellular antioxidant responses, has been implicated in neuroprotection against PD pathology."
"Our data validate the sustained upregulation of the Nrf2 pathway as a neuroprotective strategy against PD."
FULL TEXT PDF
Wednesday, February 1, 2012
A Revelation by the Yeast Model System
Degree Essays, ?.
Keywords: Friedreich Ataxia (FA), cardiomyopathy, diabetes mellitus, scoliosis, GAA trinucleotide repeats, iron, chelate iron, idebenone, Heat-shock protein (HSP) induction, manganese.
Keywords: Friedreich Ataxia (FA), cardiomyopathy, diabetes mellitus, scoliosis, GAA trinucleotide repeats, iron, chelate iron, idebenone, Heat-shock protein (HSP) induction, manganese.
Tuesday, January 31, 2012
Neurological diseases remain neglected and ignored
The Lancet, Volume 379, Issue 9813, Page 287, 28 January 2012, doi:10.1016/S0140-6736(12)60123-8
Editorial
"A clinical champion for neurology who will present a national strategy with clear targets, an inbuilt monitoring and data collection system, and priorities for research is urgently needed and long overdue."
Editorial
"A clinical champion for neurology who will present a national strategy with clear targets, an inbuilt monitoring and data collection system, and priorities for research is urgently needed and long overdue."
Monday, January 30, 2012
Is Friedreich ataxia an epigenetic disorder?
Clinical Epigenetics 2012, 4:2 doi:10.1186/1868-7083-4-2
Published: 30 January 2012 (OPEN ACCESS)
Daman Kumari and Karen Usdin
Abstract (provisional)
Friedreich ataxia (FRDA) is a debilitating and frequently fatal neurological disorder that is recessively inherited. It belongs to the group of genetic disorders known as the Repeat Expansion Diseases in which pathology arises from the deleterious consequences of the inheritance of a tandem repeat array whose repeat number exceeds a critical threshold. In the case of FRDA, the repeat unit is the triplet GAA*TTC and the tandem array is located in the first intron of the FXN gene. Pathology arises because expanded alleles make lower than normal levels of mature FXN mRNA and thus reduced levels of frataxin, the FXN gene product. The repeats form a variety of unusual DNA structures including triplexes. They also form persistent RNA:DNA hybrids in vitro and in bacteria and affect splicing in model systems. More recently the repeats in the FXN gene have also been shown to be enriched for epigenetic marks that are characteristic of transcriptionally repressed regions of the genome. However, exactly how repeats in an intron cause the FXN mRNA deficit in FRDA has been the subject of much debate. Identifying the mechanism or mechanisms responsible for the FXN mRNA deficit in FRDA is important for the development of treatments for this currently incurable disorder. This review discusses evidence for and against possible models for the repeat-mediated mRNA deficit.
Full text pdf
Published: 30 January 2012 (OPEN ACCESS)
Daman Kumari and Karen Usdin
Abstract (provisional)
Friedreich ataxia (FRDA) is a debilitating and frequently fatal neurological disorder that is recessively inherited. It belongs to the group of genetic disorders known as the Repeat Expansion Diseases in which pathology arises from the deleterious consequences of the inheritance of a tandem repeat array whose repeat number exceeds a critical threshold. In the case of FRDA, the repeat unit is the triplet GAA*TTC and the tandem array is located in the first intron of the FXN gene. Pathology arises because expanded alleles make lower than normal levels of mature FXN mRNA and thus reduced levels of frataxin, the FXN gene product. The repeats form a variety of unusual DNA structures including triplexes. They also form persistent RNA:DNA hybrids in vitro and in bacteria and affect splicing in model systems. More recently the repeats in the FXN gene have also been shown to be enriched for epigenetic marks that are characteristic of transcriptionally repressed regions of the genome. However, exactly how repeats in an intron cause the FXN mRNA deficit in FRDA has been the subject of much debate. Identifying the mechanism or mechanisms responsible for the FXN mRNA deficit in FRDA is important for the development of treatments for this currently incurable disorder. This review discusses evidence for and against possible models for the repeat-mediated mRNA deficit.
Full text pdf
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