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https://www.readbyqxmd.com/read/29218782/therapy-development-in-huntington-disease-from-current-strategies-to-emerging-opportunities
#1
REVIEW
Audrey S Dickey, Albert R La Spada
Huntington disease (HD) is a progressive autosomal dominant neurodegenerative disorder in which patients typically present with uncontrolled involuntary movements and subsequent cognitive decline. In 1993, a CAG trinucleotide repeat expansion in the coding region of the huntingtin (HTT) gene was identified as the cause of this disorder. This extended CAG repeat results in production of HTT protein with an expanded polyglutamine tract, leading to pathogenic HTT protein conformers that are resistant to protein turnover, culminating in cellular toxicity and neurodegeneration...
December 8, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29212816/complete-suppression-of-htt-fibrilization-and-disaggregation-of-htt-fibrils-by-a-trimeric-chaperone-complex
#2
Annika Scior, Alexander Buntru, Kristin Arnsburg, Anne Ast, Manuel Iburg, Katrin Juenemann, Maria Lucia Pigazzini, Barbara Mlody, Dmytro Puchkov, Josef Priller, Erich E Wanker, Alessandro Prigione, Janine Kirstein
Huntington's disease (HD) is a neurodegenerative disorder caused by an expanded CAG trinucleotide repeat in the huntingtin gene (HTT). Molecular chaperones have been implicated in suppressing or delaying the aggregation of mutant Htt. Using in vitro and in vivo assays, we have identified a trimeric chaperone complex (Hsc70, Hsp110, and J-protein) that completely suppresses fibrilization of HttExon1Q48 The composition of this chaperone complex is variable as recruitment of different chaperone family members forms distinct functional complexes...
December 6, 2017: EMBO Journal
https://www.readbyqxmd.com/read/29209494/rnai-mechanisms-in-huntington-s-disease-therapy-sirna-versus-shrna
#3
REVIEW
Sebastian Aguiar, Bram van der Gaag, Francesco Albert Bosco Cortese
Huntington's Disease (HD) is a genetically dominant trinucleotide repeat disorder resulting from CAG repeats within the Huntingtin (HTT) gene exceeding a normal range (> 36 CAGs). Symptoms of the disease manifest in middle age and include chorea, dystonia, and cognitive decline. Typical latency from diagnosis to death is 20 years. There are currently no disease-modifying therapies available to HD patients. RNAi is a potentially curative therapy for HD. A popular line of research employs siRNA or antisense oligonucleotides (ASO) to knock down mutant Huntingtin mRNA (mHTT)...
2017: Translational Neurodegeneration
https://www.readbyqxmd.com/read/29207500/enrichment-of-circular-code-motifs-in-the-genes-of-the-yeast-saccharomyces-cerevisiae
#4
Christian J Michel, Viviane Nguefack Ngoune, Olivier Poch, Raymond Ripp, Julie D Thompson
A set X of 20 trinucleotides has been found to have the highest average occurrence in the reading frame, compared to the two shifted frames, of genes of bacteria, archaea, eukaryotes, plasmids and viruses. This set X has an interesting mathematical property, since X is a maximal C3 self-complementary trinucleotide circular code. Furthermore, any motif obtained from this circular code X has the capacity to retrieve, maintain and synchronize the original (reading) frame. Since 1996, the theory of circular codes in genes has mainly been developed by analysing the properties of the 20 trinucleotides of X, using combinatorics and statistical approaches...
December 3, 2017: Life
https://www.readbyqxmd.com/read/29196769/ctg18-1-expansion-in-tcf4-among-african-americans-with-fuchs-corneal-dystrophy
#5
Allen O Eghrari, Sina Vahedi, Natalie A Afshari, S Amer Riazuddin, John D Gottsch
Purpose: Studies of Fuchs' dystrophy have largely focused on individuals of European origin. Characterization of disease among African Americans is required to ensure prognostic factors and therapeutic approaches are applicable across diverse patient populations. Methods: We assessed all self-reported black and white patients aged older than 40 years at a tertiary care institution with a diagnosis of cataract over a 3-year period for concurrent diagnosis of Fuchs' dystrophy...
December 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29190385/e-motif-formed-by-extrahelical-cytosine-bases-in-dna-homoduplexes-of-trinucleotide-and-hexanucleotide-repeats
#6
Feng Pan, Yuan Zhang, Viet Hoang Man, Christopher Roland, Celeste Sagui
Atypical DNA secondary structures play an important role in expandable trinucleotide repeat (TR) and hexanucleotide repeat (HR) diseases. The cytosine mismatches in C-rich homoduplexes and hairpin stems are weakly bonded; experiments show that for certain sequences these may flip out of the helix core, forming an unusual structure termed an 'e-motif'. We have performed molecular dynamics simulations of C-rich TR and HR DNA homoduplexes in order to characterize the conformations, stability and dynamics of formation of the e-motif, where the mismatched cytosines symmetrically flip out in the minor groove, pointing their base moieties towards the 5'-direction in each strand...
November 28, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29190130/genomic-relationships-among-sixteen-avena-species-based-on-act-6-trinucleotide-repeat-fish
#7
Xiaomei Luo, Nicholas A Tinker, Yong-Hong Zhou, Charlene P Wight, Juncheng Liu, Wenlin Wan, Liang Chen, Yuanying Peng
Knowledge of the locations of repeat elements could be very important in the assembly of genome sequences and assignment to physical chromosomes. Genomic and species relationships among sixteen species were investigated using fluorescence in situ hybridization (FISH) with the Am1 and (ACT)6 probes. The Am1 oligonucleotide probe was particularly enriched in the C genomes, whereas the (ACT)6 trinucleotide repeat probe showed a diverse distribution of hybridization patterns in the A, AB, C, AC, and ACD genomes but might not be present in the B and D genomes...
November 30, 2017: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/29172694/epigenetic-profiles-in-polyglutamine-disorders
#8
Hongmei Liu, Tie-Shan Tang, Caixia Guo
The dominant polyglutamine (polyQ) disorders are a group of progressive and incurable neurodegenerative disorders, which are caused by unstable expanded CAG trinucleotide repeats in the coding regions of their respective causative genes. The most prevalent polyQ disorders worldwide are Huntington's disease and spinocerebellar ataxia type 3. Epigenetic mechanisms, such as DNA methylation, histone modifications and chromatin remodeling and noncoding RNA regulation, regulate gene expression or genome function...
January 2018: Epigenomics
https://www.readbyqxmd.com/read/29160844/altered-aconitase-2-activity-in-huntington-s-disease-peripheral-blood-cells-and-mouse-model-striatum
#9
Chiung-Mei Chen, Yih-Ru Wu, Kuo-Hsuan Chang
Huntington's disease (HD) is caused by an unstable cytosine adenine guanine (CAG) trinucleotide repeat expansion encoding a polyglutamine tract in the huntingtin protein. Previously, we identified several up- and down-regulated protein molecules in the striatum of the Hdh((CAG)150) knock-in mice at 16 months of age, a mouse model which is modeling the early human HD stage. Among those molecules, aconitase 2 (Aco2) located in the mitochondrial matrix is involved in the energy generation and susceptible to increased oxidative stress that would lead to inactivation of Aco2 activity...
November 21, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29156589/genome-wide-development-of-microrna-based-ssr-markers-in-medicago-truncatula-with-their-transferability-analysis-and-utilization-in-related-legume-species
#10
Xueyang Min, Zhengshe Zhang, Yisong Liu, Xingyi Wei, Zhipeng Liu, Yanrong Wang, Wenxian Liu
Microsatellite (simple sequence repeats, SSRs) marker is one of the most widely used markers in marker-assisted breeding. As one type of functional markers, MicroRNA-based SSR (miRNA-SSR) markers have been exploited mainly in animals, but the development and characterization of miRNA-SSR markers in plants are still limited. In the present study, miRNA-SSR markers for Medicago truncatula (M. truncatula) were developed and their cross-species transferability in six leguminous species was evaluated. A total of 169 primer pairs were successfully designed from 130 M...
November 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29155546/a-novel-electrochemical-biosensor-based-on-a-double-signal-technique-for-d-cag-n-trinucleotide-repeats
#11
Jiao Li, Yalan Liu, Xiaoqian Zhu, Gang Chang, Hanping He, Xiuhua Zhang, Shengfu Wang
Electrochemical sensors now play an important role in analysis and detection of nucleic acids. In this work, we present a novel double-signal technique for electrochemically measuring the sequence and length of the d(CAG)n repeat. The double-signal technique used an electrochemical molecular beacon (a hairpin DNA labeled with ferrocene), which was directly modified on the surface of a gold electrode. While a reporter probe (a DNA sequence labeled with horseradish peroxidase) was hybridized to the target DNA...
November 20, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/29152580/chromosomal-targeting-by-the-type-iii-a-crispr-cas-system-can-reshape-genomes-in-staphylococcus-aureus
#12
Jing Guan, Wanying Wang, Baolin Sun
CRISPR-Cas (clustered regularly interspaced short palindromic repeat [CRISPR]-CRISPR-associated protein [Cas]) systems can provide protection against invading genetic elements by using CRISPR RNAs (crRNAs) as a guide to locate and degrade the target DNA. CRISPR-Cas systems have been classified into two classes and five types according to the content of cas genes. Previous studies have indicated that CRISPR-Cas systems can avoid viral infection and block plasmid transfer. Here we show that chromosomal targeting by the Staphylococcus aureus type III-A CRISPR-Cas system can drive large-scale genome deletion and alteration within integrated staphylococcal cassette chromosome mec (SCCmec)...
November 2017: MSphere
https://www.readbyqxmd.com/read/29149689/an-extended-sequence-specificity-for-uv-induced-dna-damage
#13
Long H Chung, Vincent Murray
The sequence specificity of UV-induced DNA damage was determined with a higher precision and accuracy than previously reported. UV light induces two major damage adducts: cyclobutane pyrimidine dimers (CPDs) and pyrimidine(6-4)pyrimidone photoproducts (6-4PPs). Employing capillary electrophoresis with laser-induced fluorescence and taking advantages of the distinct properties of the CPDs and 6-4PPs, we studied the sequence specificity of UV-induced DNA damage in a purified DNA sequence using two approaches: end-labelling and a polymerase stop/linear amplification assay...
November 2, 2017: Journal of Photochemistry and Photobiology. B, Biology
https://www.readbyqxmd.com/read/29134321/co-occurrence-of-mixed-proteinopathies-in-late-stage-huntington-s-disease
#14
Isabelle St-Amour, Andréanne Turgeon, Claudia Goupil, Emmanuel Planel, Sébastien S Hébert
Accumulating evidence highlights the potential role of mixed proteinopathies (i.e., abnormal protein aggregation) in the development of clinical manifestations of neurodegenerative diseases (NDD). Huntington's disease (HD) is an inherited NDD caused by autosomal-dominant expanded CAG trinucleotide repeat mutation in the gene coding for Huntingtin (Htt). Previous studies have suggested the coexistence of phosphorylated-Tau, α-synuclein (α-Syn) and TAR DNA-binding protein 43 (TDP-43) inclusions in HD. However, definite evidence that HD pathology in humans can be accompanied by other proteinopathies is still lacking...
November 13, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29114849/risk-of-skin-cancer-among-patients-with-myotonic-dystrophy-type-1-based-on-primary-care-physician-data-from-the-united-kingdom-clinical-practice-research-datalink
#15
Youjin Wang, Ruth M Pfeiffer, Rotana Alsaggaf, Wilhelmine Meeraus, Julia C Gage, Lesley A Anderson, Renée C Bremer, Nikoletta Nikolenko, Hanns Lochmuller, Mark H Greene, Shahinaz M Gadalla
Myotonic dystrophy type 1 (DM1) is an inherited multisystem neuromuscular disorder caused by a CTG trinucleotide repeat expansion in the DMPK gene. Recent evidence documents that DM1 patients have an increased risk of certain cancers, but whether skin cancer risks are elevated is unclear. Using the U.K. Clinical Practice Research Datalink (CPRD), we identified 1,061 DM1 patients and 15,119 DM1-free individuals matched on gender, birth year (±2 years), attending practice, and registration year (±1 year). We calculated the hazard ratios (HRs) and 95% confidence intervals (CIs) for the association of DM1 diagnosis with skin cancer risk using Cox proportional hazards models, for all skin cancers combined and by histological subtype...
November 7, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29114038/aberrant-rac1-cofilin-signaling-mediates-defects-in-dendritic-spines-synaptic-function-and-sensory-perception-in-fragile-x-syndrome
#16
Alexander Pyronneau, Qionger He, Jee-Yeon Hwang, Morgan Porch, Anis Contractor, R Suzanne Zukin
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disabilities and a leading cause of autism. FXS is caused by a trinucleotide expansion in the gene FMR1 on the X chromosome. The neuroanatomical hallmark of FXS is an overabundance of immature dendritic spines, a factor thought to underlie synaptic dysfunction and impaired cognition. We showed that aberrantly increased activity of the Rho GTPase Rac1 inhibited the actin-depolymerizing factor cofilin, a major determinant of dendritic spine structure, and caused disease-associated spine abnormalities in the somatosensory cortex of FXS model mice...
November 7, 2017: Science Signaling
https://www.readbyqxmd.com/read/29113982/nanopore-sequencing-of-complex-genomic-rearrangements-in-yeast-reveals-mechanisms-of-repeat-mediated-double-strand-break-repair
#17
Ryan J McGinty, Rachel G Rubinstein, Alexander J Neil, Margaret Dominska, Denis Kiktev, Thomas D Petes, Sergei M Mirkin
Improper DNA double-strand break (DSB) repair results in complex genomic rearrangements (CGRs) in many cancers and various congenital disorders in humans. Trinucleotide repeat sequences, such as (GAA)n repeats in Friedreich's ataxia, (CTG)n repeats in myotonic dystrophy, and (CGG)n repeats in fragile X syndrome, are also subject to double-strand breaks within the repetitive tract followed by DNA repair. Mapping the outcomes of CGRs is important for understanding their causes and potential phenotypic effects...
December 2017: Genome Research
https://www.readbyqxmd.com/read/29111370/synthesis-and-optical-properties-of-pyrrolidinyl-peptide-nucleic-acid-bearing-a-base-discriminating-fluorescence-nucleobase-8-pyrene-1-yl-ethynyladenine
#18
Duangrat Nim-Anussornkul, Tirayut Vilaivan
A combination of fluorophore and nucleobase through a π-conjugated rigid linker integrates the base pairing and the fluorescence change into a single event. Such base discriminating fluorophore can change its fluorescence as a direct response to the base pairing event and therefore have advantages over tethered labels or base surrogates lacking the hydrogen-bonding ability. 8-(Pyrene-1-yl)ethynyl-adenine (A(PyE)) has been extensively used as fluorescence labels in DNA and LNA, but it showed little discrimination between different nucleobases...
October 13, 2017: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/29110701/large-scale-analysis-reveals-that-the-genome-features-of-simple-sequence-repeats-are-generally-conserved-at-the-family-level-in-insects
#19
Simin Ding, Shuping Wang, Kang He, Mingxing Jiang, Fei Li
BACKGROUND: Simple sequence repeats (SSR), also called microsatellites, have been widely used as genetic markers, and have been extensively studied in some model insects. At present, the genomes of more than 100 insect species are available. However, the features of SSRs in most insect genomes remain largely unknown. RESULTS: We identified 15.01 million SSRs across 136 insect genomes. The number of identified SSRs was positively associated with genome size in insects, but the frequency and density per megabase of genomes were not...
November 6, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29093800/diversification-of-the-p-genome-among-agropyron-gaertn-poaceae-species-detected-by-fish
#20
Yan Zhao, Jihong Xie, Quanwen Dou, Junjie Wang, Zhong Zhang
The genomes of five Agropyron Gaertner, 1770 species were characterized using all potential di- or trinucleotide simple sequence repeat (SSR) motifs and four satellite DNA repeats as fluorescence in situ hybridization (FISH) probes. The sites of 5S and 45S rDNA were relatively conserved among the diploid and tetraploid species. A number of sites for the dinucleotide SSRs AC, AG, and pSc119.2 was detected in all investigated species except A. mongolicum Keng, 1938. Several different trinucleotide SSRs were identified in different tetraploid species...
2017: Comparative Cytogenetics
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