BMC Bioinformatics 2012, 13(Suppl 4):S3 doi:10.1186/1471-2105-13-S4-S3
Marco Pellegrini 1, Maria Elena Renda 1 and Alessio Vecchio 2
1 Istituto di Informatica e Telematica, Consiglio Nazionale delle Ricerche, Pisa I-56124, Italy
2 Dipartimento di Ingegneria dell'Informazione, Università di Pisa, Pisa I-56122, Italy
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Fuzzy tandem repeats as potential cis-regulatory elements in repeat expansion disorders
In [14] we noticed that the locus associated with the unstable trinucleotide repeat in the Frataxin protein mRNA coding sequence (whose abnormal expansion is cause of Frederich's ataxia) was included in a much longer fuzzy TR, detected using the proposed TRStalker system.
The present research originated from the hypothesis that this fact (a long fuzzy TR covering the unstable locus) could be observed in a large number of trinucleotide repeat disorders. Consequently, FTR could be exposed as a novel cis-regulatory element not yet studied in literature.
We employ the tool TReaDS in order to quickly collect and organize the output of several TR finding algorithms into a single easy to read report in support to this hypothesis.
Wednesday, March 28, 2012
Tuesday, March 27, 2012
The role of aberrant mitochondrial bioenergetics in diabetic neuropathy.
Neurobiol Dis. 2012 Mar 9. [Epub ahead of print]
Chowdhury SK, Smith DR, Fernyhough P.
Division of Neurodegenerative Disorders, St Boniface Hospital Research Centre, Winnipeg, MB, Canada.
The role of mitochondrial dysfunction in the etiology of diabetic neuropathy is compared with other types of neuropathy with a distal dying-back pathology such as Friedreich ataxia, Charcot-Marie-Tooth ....
Chowdhury SK, Smith DR, Fernyhough P.
Division of Neurodegenerative Disorders, St Boniface Hospital Research Centre, Winnipeg, MB, Canada.
The role of mitochondrial dysfunction in the etiology of diabetic neuropathy is compared with other types of neuropathy with a distal dying-back pathology such as Friedreich ataxia, Charcot-Marie-Tooth ....
Stem cell Research in Friedreich Ataxia
igbmc, Translational Medicine and Neurogenetics
Hélène Puccio, Research Director Inserm
Excellent presentation about stem cells, present research status.
Highlights:
"Regenerative medicine: too early, not scientifically mature"
"CAREFULL: TOO EARLY TO THINK ABOUT THERAPEUTIC APPLICATION"
Hélène Puccio, Research Director Inserm
Excellent presentation about stem cells, present research status.
Highlights:
"Regenerative medicine: too early, not scientifically mature"
"CAREFULL: TOO EARLY TO THINK ABOUT THERAPEUTIC APPLICATION"
Monday, March 26, 2012
Drugs developed to treat diabetes, liraglutide and lixisenatide, cross the blood brain barrier and enhance neurogenesis
BMC Neuroscience 2012, 13:33 doi:10.1186/1471-2202-13-33
Kerry Hunter and Christian Holscher
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"Conclusions:
Our results suggest that these novel incretin analogues cross the BBB and show physiological activity and neurogenesis in the brain, which may be of use as a treatment of neurodegenerative diseases."
Kerry Hunter and Christian Holscher
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"Conclusions:
Our results suggest that these novel incretin analogues cross the BBB and show physiological activity and neurogenesis in the brain, which may be of use as a treatment of neurodegenerative diseases."
Saturday, March 24, 2012
Diabetes Mellitus in Children and Adolescents with Genetic Syndromes
Exp Clin Endocrinol Diabetes ; : -DOI: 10.1055/s-0032-1306330
Schmidt, F.; Kapellen, T. M.; Wiegand, S.; Herbst, A.; Wolf, J.; Fröhlich-Reiterer, E. E.; Rabl, W.; Rohrer, T.; Holl, R. W.; for the DPV-Wiss Study Group and the BMBF Competence Network Diabetes.
Keywords: Turner syndrome, Prader-Willi syndrome, Friedreich ataxia, Alström syndrome, Klinefelter syndrome, Pediatric diabetology.
Schmidt, F.; Kapellen, T. M.; Wiegand, S.; Herbst, A.; Wolf, J.; Fröhlich-Reiterer, E. E.; Rabl, W.; Rohrer, T.; Holl, R. W.; for the DPV-Wiss Study Group and the BMBF Competence Network Diabetes.
Keywords: Turner syndrome, Prader-Willi syndrome, Friedreich ataxia, Alström syndrome, Klinefelter syndrome, Pediatric diabetology.
Friday, March 23, 2012
Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model
Hum. Mol. Genet. (2012) doi: 10.1093/hmg/dds110 First published online: March 23, 2012
Barbara Tomassini1, Gaetano Arcuri1, Silvia Fortuni1, Chiranjeevi Sandi2, Vahid
Ezzatizadeh2, Carlo Casali3, Ivano Condò1, Florence Malisan1, Sahar Al-Mahdawi2,
Mark Pook2 and Roberto Testi1
1 Laboratory of Immunology and Signal Transduction, University of Rome “Tor
Vergata”, 00133 Rome, Italy
2 Division of Biosciences, School of Health Sciences and Social Care, Brunel University,
Uxbridge, UB8 3PH, UK
3 Department of Neurology, University of Rome “La Sapienza”, Polo Pontino, 04100
Latina, Italy
Importantly,in vivo treatment with IFN increases frataxin expression in DRG neurons, prevents their pathological changes and ameliorates the sensorimotor performance in FRDA mice. These results disclose new roles for IFN in cellular metabolism and have direct implications for the treatment of FRDA.
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Barbara Tomassini1, Gaetano Arcuri1, Silvia Fortuni1, Chiranjeevi Sandi2, Vahid
Ezzatizadeh2, Carlo Casali3, Ivano Condò1, Florence Malisan1, Sahar Al-Mahdawi2,
Mark Pook2 and Roberto Testi1
1 Laboratory of Immunology and Signal Transduction, University of Rome “Tor
Vergata”, 00133 Rome, Italy
2 Division of Biosciences, School of Health Sciences and Social Care, Brunel University,
Uxbridge, UB8 3PH, UK
3 Department of Neurology, University of Rome “La Sapienza”, Polo Pontino, 04100
Latina, Italy
Importantly,in vivo treatment with IFN increases frataxin expression in DRG neurons, prevents their pathological changes and ameliorates the sensorimotor performance in FRDA mice. These results disclose new roles for IFN in cellular metabolism and have direct implications for the treatment of FRDA.
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Full Text PDF
Thursday, March 22, 2012
Mitochondrial quality control: a matter of life and death for neurons
The EMBO Journal (2012) 31, 1336 - 1349, doi:10.1038/emboj.2012.38
Elena I Rugarli 1,2 and Thomas Langer 2,3,4
1 Institute for Zoology, University of Cologne, Cologne, Germany
2 Center for Molecular Medicine (CMMC) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
3 Institute for Genetics, University of Cologne, Cologne, Germany
4 Max-Planck-Institute for Biology of Aging, Cologne, Germany
Keywords: mitochondria, mitochondrial fusion, mitophagy, mitochondrial proteases, neurodegeneration
Elena I Rugarli 1,2 and Thomas Langer 2,3,4
1 Institute for Zoology, University of Cologne, Cologne, Germany
2 Center for Molecular Medicine (CMMC) and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany
3 Institute for Genetics, University of Cologne, Cologne, Germany
4 Max-Planck-Institute for Biology of Aging, Cologne, Germany
Keywords: mitochondria, mitochondrial fusion, mitophagy, mitochondrial proteases, neurodegeneration
Monogenic Mitochondrial Disorders
N Engl J Med 2012; 366:1132-1141March 22, 2012
Werner J.H. Koopman, Ph.D., Peter H.G.M. Willems, Ph.D., and Jan A.M. Smeitink, Ph.D.
From the Department of Biochemistry, Nijmegen Center for Molecular Life Sciences (W.J.H.K., P.H.G.M.W.), and the Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders (J.A.M.S.) — both at Radboud University Medical Center, Nijmegen, the Netherlands.
Review Article
Werner J.H. Koopman, Ph.D., Peter H.G.M. Willems, Ph.D., and Jan A.M. Smeitink, Ph.D.
From the Department of Biochemistry, Nijmegen Center for Molecular Life Sciences (W.J.H.K., P.H.G.M.W.), and the Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders (J.A.M.S.) — both at Radboud University Medical Center, Nijmegen, the Netherlands.
Review Article
The many faces of insulin-like peptide signalling in the brain
Nature Reviews Neuroscience 13, 225-239 (April 2012) | doi:10.1038/nrn3209
Ana M. Fernandez & Ignacio Torres-Alemán
Keywords: insulin-like peptides (ILPs), insulin, insulin-like growth factor 1 (IGF1) and IGF2, brain, regulate energy homeostasis.
Comment: The IGF-1 has been proposed as a possible FA treatment by several researchers, it have even performed a clinical trial proof of concept, the results has been inconclusive because of its short duration and small number of participants
Ana M. Fernandez & Ignacio Torres-Alemán
Keywords: insulin-like peptides (ILPs), insulin, insulin-like growth factor 1 (IGF1) and IGF2, brain, regulate energy homeostasis.
Comment: The IGF-1 has been proposed as a possible FA treatment by several researchers, it have even performed a clinical trial proof of concept, the results has been inconclusive because of its short duration and small number of participants
Tuesday, March 20, 2012
High Resolution Melting: improvements in the genetic diagnosis of Hypertrophic Cardiomyopathy in a Portuguese cohort
BMC Medical Genetics 2012, 13:17 doi:10.1186/1471-2350-13-17
Susana Santos, Vanda Marques, Marina Pires, Leonor Silveira, Helena Oliveira
Vasco Lanca, Dulce Brito, Hugo Madeira, Esteves J Fonseca, Antonio Freitas,
Isabel M Carreira, Isabel M Gaspar, Carolino Monteiro, Alexandra R Fernandes.
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Keywords: Hypertrophic cardiomyopathy, Gene-based diagnosis, High Resolution Melting, Sarcomere proteins, CSRP3 gen, FXN gene.
Background: Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine.
Susana Santos, Vanda Marques, Marina Pires, Leonor Silveira, Helena Oliveira
Vasco Lanca, Dulce Brito, Hugo Madeira, Esteves J Fonseca, Antonio Freitas,
Isabel M Carreira, Isabel M Gaspar, Carolino Monteiro, Alexandra R Fernandes.
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Keywords: Hypertrophic cardiomyopathy, Gene-based diagnosis, High Resolution Melting, Sarcomere proteins, CSRP3 gen, FXN gene.
Background: Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine.
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