BMC Systems Biology 2011, 5:6doi:10.1186/1752-0509-5-6
Shiek S.S.J Ahmed, Abdul R. Ahameethunisa, Winkins Santosh, Srinivasa Chakravarthy and Suresh Kumar
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This study improves the understanding of the complex interactions that occur between neurological and psychiatric diseases with aging, which lead to determine the diagnostic markers. Also, the disease-disease association results could be helpful to determine the symptom relationships between neurological and psychiatric diseases. Together, our study presents many research opportunities in post-genomic biomarker development.
"this approach provides the additional information that PDHB is not only associated with Parkinson’s disease but also associated with Athetosis and Friedreich Ataxia"
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Tuesday, January 18, 2011
Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy
Genome Med 2010, 2:91 doi:10.1186/gm212
Rosamaria Santarelli, Department of Medical and Surgical Specialities, Service of Audiology and Phoniatrics, University of Padua
Keywords: Auditory neuropathy (AN), disruption of auditory nerve activity, impairment of speech perception, hearing loss, abnormality of auditory brainstem potentials, preserved outer hair-cell activities, multisystem involvement, peripheral and optic neuropathies, abnormal cochlear potentials have been recorded from patients, genetically based auditory neuropathies, molecular mechanisms.
Rosamaria Santarelli, Department of Medical and Surgical Specialities, Service of Audiology and Phoniatrics, University of Padua
Keywords: Auditory neuropathy (AN), disruption of auditory nerve activity, impairment of speech perception, hearing loss, abnormality of auditory brainstem potentials, preserved outer hair-cell activities, multisystem involvement, peripheral and optic neuropathies, abnormal cochlear potentials have been recorded from patients, genetically based auditory neuropathies, molecular mechanisms.
Saturday, January 15, 2011
In Focus: Friedreich’s Ataxia, MDA Special Report on Friedreich’s Ataxia
A new MDA special report on Friedreich’s ataxia (FA) is now available online. The report provides a wide range of information about FA, including research news, medical management updates and personal stories from people affected by the disease.
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Friday, January 14, 2011
Friedreich's Ataxia (GAA)n•(TTC)n Repeats Strongly Stimulate Mitotic Crossovers in Saccharomyces cerevisae
1 Department of Molecular Genetics and Microbiology, Duke University, Durham, North Carolina, United States of America, 2 School of Biology and Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, Georgia, United States of America, 3 Department of Biology, Tufts University, Medford, Massachusetts, United States of America
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Although meiotic recombination has been much more studied than mitotic recombination, mitotic recombination is a universal property. Meiotic recombination rates are quite variable within the genome, with some chromosomal regions (hotspots) having much higher levels of exchange than other regions (coldspots). For mitotic recombination, although some types of DNA sequences are known to be associated with elevated recombination rates (highly-transcribed genes, inverted repeated sequences), relatively few hotspots have been described. In this report, we show that a 690 base pair region consisting of 230 copies of the (GAA)n•(TTC)n trinucleotide repeat stimulates mitotic crossovers in yeast 10,000-fold more strongly than an “average” yeast sequence. This sequence is a preferred site for chromosome breakage in stationary phase yeast cells. Our findings may be relevant to understanding the expansions of the (GAA)n•(TTC)n trinucleotide repeat tracts that are associated with the human disease Friedreich's ataxia.
Thursday, January 13, 2011
Skin provides Australia's first adult stem cells for rare genetic disease
January 13, 2011
(PhysOrg.com) -- Scientists have developed Australia’s first adult induced pluripotent stem cell lines using skin biopsies from patients with the rare genetic disease Friedreich Ataxia (FA).
Newspaper article based on a paper published in Stem Cell Reviews and Reports the last December 22 (Generation of Induced Pluripotent Stem Cell Lines from Friedreich Ataxia Patients.)
(PhysOrg.com) -- Scientists have developed Australia’s first adult induced pluripotent stem cell lines using skin biopsies from patients with the rare genetic disease Friedreich Ataxia (FA).
Newspaper article based on a paper published in Stem Cell Reviews and Reports the last December 22 (Generation of Induced Pluripotent Stem Cell Lines from Friedreich Ataxia Patients.)
Monday, January 10, 2011
Localization of sequence variations in PGC-1alpha influence their modifying effect in Huntington disease
Molecular Neurodegeneration 2011, 6:1doi:10.1186/1750-1326-6-1
Hong Van B Che, Silke Metzger, Esteban Portal, Carolin Deyle, Olaf Riess and Huu Phuc Nguyen.
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Results
Two SNPs, one in the promoter and one in the transcribed region of the gene, showed a significant effect on the AAO. While the minor allele of SNP rs7665116 (g.38570C), located in the transcribed gene region, was associated with a delay in disease onset, especially in HD patients with Italian ancestry, the minor allele of SNP rs2970870 (g.-1437C) in the promoter region leads to an earlier onset of HD in its homozygous state. Additionally, global testing of haplotype block 2, which covers the main part of the transcribed region of the gene, revealed an association between block 2 haplotypes and the disease onset.
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Hong Van B Che, Silke Metzger, Esteban Portal, Carolin Deyle, Olaf Riess and Huu Phuc Nguyen.
OPEN ACCES
Results
Two SNPs, one in the promoter and one in the transcribed region of the gene, showed a significant effect on the AAO. While the minor allele of SNP rs7665116 (g.38570C), located in the transcribed gene region, was associated with a delay in disease onset, especially in HD patients with Italian ancestry, the minor allele of SNP rs2970870 (g.-1437C) in the promoter region leads to an earlier onset of HD in its homozygous state. Additionally, global testing of haplotype block 2, which covers the main part of the transcribed region of the gene, revealed an association between block 2 haplotypes and the disease onset.
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Saturday, January 8, 2011
Preventing the ubiquitin/proteasome-dependent degradation of frataxin, the protein defective in Friedreich’s Ataxia
Human Molecular Genetics doi:10.1093/hmg/ddq566
Alessandra Rufini, Silvia Fortuni, Gaetano Arcuri, Ivano Condo’, Dario Serio, Ottaviano Incani, Florence Malisan, Natascia Ventura, Roberto Testi
kEYWORDS: Friedreich’s Ataxia (FRDA),frataxin, mitochondrial defects, oxidative damage, frataxin stability and degradation, ubiquitin-proteasome system, K147, K147R substitution, aconitase activity, ATP levels, therapeutic potential, frataxin degradation pathway.
Alessandra Rufini, Silvia Fortuni, Gaetano Arcuri, Ivano Condo’, Dario Serio, Ottaviano Incani, Florence Malisan, Natascia Ventura, Roberto Testi
kEYWORDS: Friedreich’s Ataxia (FRDA),frataxin, mitochondrial defects, oxidative damage, frataxin stability and degradation, ubiquitin-proteasome system, K147, K147R substitution, aconitase activity, ATP levels, therapeutic potential, frataxin degradation pathway.
A registry of registries? The US backs the idea for patients
Nature Medicine Volume:17, Page:4 Year published: (2011)
DOI:10.1038/nm0111-4a, Published online 07 January 2011
Monica Heger
"The database would serve patients and physicians looking for specific disease registries, researchers investigating a particular disease and drug developers".
Keywords: ClinicalTrials.gov, registry, federally and privately funded clinical trials, world, registry of patient registries.
DOI:10.1038/nm0111-4a, Published online 07 January 2011
Monica Heger
"The database would serve patients and physicians looking for specific disease registries, researchers investigating a particular disease and drug developers".
Keywords: ClinicalTrials.gov, registry, federally and privately funded clinical trials, world, registry of patient registries.
Friday, January 7, 2011
Patent application title: Inhibitors of Acetyl-CoA Carboxylase for Treatment of Neuronal Hypometabolism
Publication date: 01/06/2011, Patent application number: 20110003767
Treatment, prevention, inhibition or alleviation of diseases associated with neuronal hypometabolism and/or loss of cognitive function caused by reduced neuronal metabolism such as, for example, Age Associated Memory Impairment (AAMI), Mild Cognitive Impairment (MCI), Alzheimer's disease, Parkinson's disease, Friedreich's Ataxia (FRDA).....
Treatment, prevention, inhibition or alleviation of diseases associated with neuronal hypometabolism and/or loss of cognitive function caused by reduced neuronal metabolism such as, for example, Age Associated Memory Impairment (AAMI), Mild Cognitive Impairment (MCI), Alzheimer's disease, Parkinson's disease, Friedreich's Ataxia (FRDA).....
Wednesday, January 5, 2011
Key Players and Their Role During Mitochondrial Iron–Sulfur Cluster Biosynthesis
Chemistry - A European Journal, n/a. doi: 10.1002/chem.201002143
Article first published online: 5 JAN 2011
Swati Rawat, Dr. Timothy L. Stemmler
Keywords: biosynthesis, Fe–S clusters, frataxin, Isu scaffold, metalloproteins
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Article first published online: 5 JAN 2011
Swati Rawat, Dr. Timothy L. Stemmler
Keywords: biosynthesis, Fe–S clusters, frataxin, Isu scaffold, metalloproteins
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