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https://www.readbyqxmd.com/read/28979235/peripheral-oxidative-stress-biomarkers-in-spinocerebellar-ataxia-type-3-machado-joseph-disease
#1
Adriano M de Assis, Jonas Alex Morales Saute, Aline Longoni, Clarissa Branco Haas, Vitor Rocco Torrez, Andressa Wigner Brochier, Gabriele Nunes Souza, Gabriel Vasata Furtado, Tailise Conte Gheno, Aline Russo, Thais Lampert Monte, Raphael Machado Castilhos, Artur Schumacher-Schuh, Rui D'Avila, Karina Carvalho Donis, Carlos Roberto de Mello Rieder, Diogo Onofre Souza, Suzi Camey, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, Luis Valmor Portela
OBJECTIVES: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a polyglutamine disorder with no current disease-modifying treatment. Conformational changes in mutant ataxin-3 trigger different pathogenic cascades, including reactive oxygen species (ROS) generation; however, the clinical relevance of oxidative stress elements as peripheral biomarkers of SCA3/MJD remains unknown. We aimed to evaluate ROS production and antioxidant defense capacity in symptomatic and presymptomatic SCA3/MJD individuals and correlate these markers with clinical and molecular data with the goal of assessing their properties as disease biomarkers...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28970564/influence-of-mismatched-and-bulged-nucleotides-on-snp-preferential-rnase-h-cleavage-of-rna-antisense-gapmer-heteroduplexes
#2
Dorota Magner, Ewa Biala, Jolanta Lisowiec-Wachnicka, Ryszard Kierzek
This study focused on determining design rules for gapmer-type antisense oligonucleotides (ASOs), that can differentiate cleavability of two SNP variants of RNA in the presence of ribonuclease H based on the mismatch type and position in the heteroduplex. We describe the influence of structural motifs formed by several arrangements of multiple mismatches (various types of mismatches and their position within the ASO/target RNA duplex) on RNase H cleavage selectivity of five different SNP types. The targets were mRNA fragments of APP, SCA3, SNCA and SOD1 genes, carrying C-to-G, G-to-C, G-to-A, A-to-G and C-to-U substitutions...
October 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28918024/antisense-oligonucleotide-mediated-removal-of-the-polyglutamine-repeat-in-spinocerebellar-ataxia-type-3-mice
#3
Lodewijk J A Toonen, Frank Rigo, Haico van Attikum, Willeke M C van Roon-Mom
Spinocerebellar ataxia type 3 (SCA3) is a currently incurable neurodegenerative disorder caused by a CAG triplet expansion in exon 10 of the ATXN3 gene. The resultant expanded polyglutamine stretch in the mutant ataxin-3 protein causes a gain of toxic function, which eventually leads to neurodegeneration. One important function of ataxin-3 is its involvement in the proteasomal protein degradation pathway, and long-term downregulation of the protein may therefore not be desirable. In the current study, we made use of antisense oligonucleotides to mask predicted exonic splicing signals, resulting in exon 10 skipping from ATXN3 pre-mRNA...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28912527/treatment-with-caffeic-acid-and-resveratrol-alleviates-oxidative-stress-induced-neurotoxicity-in-cell-and-drosophila-models-of-spinocerebellar-ataxia-type3
#4
Yu-Ling Wu, Jui-Chih Chang, Wei-Yong Lin, Chien-Chun Li, Mingli Hsieh, Haw-Wen Chen, Tsu-Shing Wang, Chin-San Liu, Kai-Li Liu
Spinocerebellar ataxia type 3 (SCA3) is caused by the expansion of a polyglutamine (polyQ) repeat in the protein ataxin-3 which is involved in susceptibility to mild oxidative stress induced neuronal death. Here we show that caffeic acid (CA) and resveratrol (Res) decreased reactive oxygen species (ROS), mutant ataxin-3 and apoptosis and increased autophagy in the pro-oxidant tert-butyl hydroperoxide (tBH)-treated SK-N-SH-MJD78 cells containing mutant ataxin-3. Furthermore, CA and Res improved survival and locomotor activity and decreased mutant ataxin-3 and ROS levels in tBH-treated SCA3 Drosophila...
September 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28900413/impaired-cerebellum-to-primary-motor-cortex-associative-plasticity-in-parkinson-s-disease-and-spinocerebellar-ataxia-type-3
#5
Ming-Kuei Lu, Jui-Cheng Chen, Chun-Ming Chen, Jeng-Ren Duann, Ulf Ziemann, Chon-Haw Tsai
BACKGROUND: Functional perturbation of the cerebellum (CB)-motor cortex (M1) interactions may underlie pathophysiology of movement disorders, such as Parkinson's disease (PD) and spinocerebellar ataxia type 3 (SCA3). Recently, M1 motor excitability can be bidirectionally modulated in young subjects by corticocortical paired associative stimulation (PAS) on CB and contralateral M1 with transcranial magnetic stimulation (TMS), probably through the cerebello-dentato-thalamo-cortical (CDTC) circuit...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28877638/spinocerebellar-ataxia-a-critical-review-of-cognitive-and-socio-cognitive-deficits
#6
Flora Giocondo, Giuseppe Curcio
PURPOSE: The primary aim of this contribution is to provide a critical discussion on cognitive and sociocognitive implications of spinocerebellar ataxias (SCAs) subtypes. The term SCA refers to a group of neurodegenerative disorders that have been increasingly investigated in the last years, sharing the characteristic of progressive ataxia resulting from degeneration of cerebellum and its connections. In past decades only involvement of cerebellum in behaviour and timing has been investigated, bringing to the belief about its central role in timing of movement and sensation, particularly for short intervals of time...
September 22, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28855740/polyglutamine-spinocerebellar-ataxias-from-genes-to-potential-treatments
#7
REVIEW
Henry L Paulson, Vikram G Shakkottai, H Brent Clark, Harry T Orr
The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and SCA7) are caused by expansion of a glutamine-encoding CAG repeat in the affected gene. These SCAs represent a substantial portion of the polyglutamine neurodegenerative disorders and provide insight into this class of diseases as a whole. Recent years have seen considerable progress in deciphering the clinical, pathological, physiological and molecular aspects of the polyglutamine SCAs, with these advances establishing a solid base from which to pursue potential therapeutic approaches...
October 2017: Nature Reviews. Neuroscience
https://www.readbyqxmd.com/read/28854700/comparison-of-spinocerebellar-ataxia-type-3-mouse-models-identifies-early-gain-of-function-cell-autonomous-transcriptional-changes-in-oligodendrocytes
#8
Biswarathan Ramani, Bharat Panwar, Lauren R Moore, Bo Wang, Rogerio Huang, Yuanfang Guan, Henry L Paulson
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by a polyglutamine-encoding CAG repeat expansion in the ATXN3 gene. This expansion leads to misfolding and aggregation of mutant ataxin-3 (ATXN3) and degeneration of select brain regions. A key unanswered question in SCA3 and other polyglutamine diseases is the extent to which neurodegeneration is mediated through gain-of-function versus loss-of-function. To address this question in SCA3, we performed transcriptional profiling on the brainstem, a highly vulnerable brain region in SCA3, in a series of mouse models with varying degrees of ATXN3 expression and aggregation...
September 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28819072/-overview-of-hereditary-spinocerebellar-ataxias-in-japan
#9
Masayoshi Tada, Akio Yokoseki, Osamu Onodera
Hereditary spinocerebellar degenerations (SCD) are a group of neurodegenerative disorders characterized by slowly progressive ataxia associated with non-cerebellar neurological signs and symptoms. In the Japanese population, dominantly inherited SCDs are much more common than recessively inherited or X-linked SCDs. The most common dominantly inherited SCD in Japan, as well as in many other countries, is Machado-Joseph disease, also known as spinocerebellar ataxia type 3 (MJD/SCA3). MJD/SCA3 is frequently accompanied by non-cerebellar symptoms, including progressive external ophthalmoplegia, pyramidal signs, dystonia, rigidity, dysarthria, and distal muscle atrophies...
August 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28791574/heterotopic-purkinje-cells-a-comparative-postmortem-study-of-essential-tremor-and-spinocerebellar-ataxias-1-2-3-and-6
#10
Elan D Louis, Sheng-Han Kuo, William J Tate, Geoffrey C Kelly, Jesus Gutierrez, Etty P Cortes, Jean-Paul G Vonsattel, Phyllis L Faust
Essential tremor (ET) is among the most common neurological diseases. Postmortem studies have noted a series of pathological changes in the ET cerebellum. Heterotopic Purkinje cells (PCs) are those whose cell body is mis-localized in the molecular layer. In neurodegenerative settings, these are viewed as a marker of the progression of neuronal degeneration. We (1) quantify heterotopias in ET cases vs. controls, (2) compare ET cases to other cerebellar degenerative conditions (spinocerebellar ataxias (SCAs) 1, 2, 3, and 6), (3) compare these SCAs to one another, and (4) assess heterotopia within the context of associated PC loss in each disease...
August 8, 2017: Cerebellum
https://www.readbyqxmd.com/read/28782341/genetic-screening-for-spinocerebellar-ataxia-genes-in-a-japanese-single-hospital-cohort
#11
Ryuji Sakakibara, Fuyuki Tateno, Masahiko Kishi, Yohei Tsuyusaki, Yosuke Aiba, Hitoshi Terada, Tsutomu Inaoka, Setsu Sawai, Satoshi Kuwabara, Fumio Nomura
OBJECTIVE: Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy. Recently, an autosomal-dominant spinocerebellar ataxia (SCA) mutation was identified in a cohort of patients with non-MSA-C sporadic cerebellar ataxia. The aim of this study is to genetically screen genes involved in SCA in a Japanese single-hospital cohort...
September 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28699106/promoter-variant-alters-expression-of-the-autophagic-becn1-gene-implications-for-clinical-manifestations-of-machado-joseph-disease
#12
Nadiya Kazachkova, Mafalda Raposo, Amanda Ramos, Rafael Montiel, Manuela Lima
Autophagy is especially important in disorders where accumulation of the mutant protein is a hallmark, such as the Machado-Joseph disease/spinocerebellar ataxia type 3 (MJD/SCA3). We analyzed the promoter of the BECN1 gene, whose overexpression has been reported to exert neuroprotective effects in MJD, with the aim of finding variants that could be associated with expression levels of beclin-1 and could be tested as modifiers of onset and disease severity. A fragment encompassing the BECN1 promoter was sequenced in 95 MJD subjects and 120 controls...
July 11, 2017: Cerebellum
https://www.readbyqxmd.com/read/28676741/the-truncated-c-terminal-fragment-of-mutant-atxn3-disrupts-mitochondria-dynamics-in-spinocerebellar-ataxia-type-3-models
#13
Jung-Yu Hsu, Yu-Ling Jhang, Pei-Hsun Cheng, Yu-Fan Chang, Su-Han Mao, Han-In Yang, Chia-Wei Lin, Chuan-Mu Chen, Shang-Hsun Yang
Spinocerebellar ataxia type 3 (SCA3), known as Machado-Joseph disease, is an autosomal dominant disease caused by an abnormal expansion of polyglutamine in ATXN3 gene, leading to neurodegeneration in SCA3 patients. Similar to other neurodegenerative diseases, the dysfunction of mitochondria is observed to cause neuronal death in SCA3 patients. Based on previous studies, proteolytic cleavage of mutant ATXN3 is found to produce truncated C-terminal fragments in SCA3 models. However, whether these truncated mutant fragments disturb mitochondrial functions and result in pathological death is still unclear...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28667374/human-umbilical-cord-mesenchymal-stem-cells-protect-against-sca3-by-modulating-the-level-of-70-kd-heat-shock-protein
#14
Tan Li, Yi Liu, Linjie Yu, Jiamin Lao, Meijuan Zhang, Jiali Jin, Zhengjuan Lu, Zhuo Liu, Yun Xu
Spinocerebellar ataxia 3 (SCA3), which is a progressive neurodegenerative disease, is currently incurable. Emerging studies have reported that human umbilical cord mesenchymal stem cells (HUC-MSCs) transplantation could be a promising therapeutic strategy for cerebellar ataxias. However, few studies have evaluated the effects of HUC-MSCs on SCA3 transgenic mouse. Thus, we investigated the effects of HUC-MSCs on SCA3 mice and the underlying mechanisms in this study. SCA3 transgenic mice received systematic administration of 2 × 10(6) HUC-MSCs once per week for 12 continuous weeks...
June 30, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/28666509/ophthalmological-features-of-machado-joseph-disease
#15
Abdul Qayyum Rana, Danial Tahir Qureshi, Mujtaba Morshed, Zakerabibi M Kachhvi, Mohammad A Rana, Abdul Rehman M Qureshi
Machado-Joseph disease (MJD) or spinocerebellar ataxia type-3 (SCA3) is a rare and progressive neurodegenerative disorder, as well as the most frequently inherited spinocerebellar ataxia. It has extensive polymorphic features, described through a spectrum of neurological, and especially, ophthalmological manifestations. Besides the deterioration of the oculomotor systems, degeneration predominantly involves the cerebellar, pyramidal, extra-pyramidal, and peripheral motor systems. Few patients express Parkinsonian features as well...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28624196/evaluation-of-antisense-oligonucleotides-targeting-atxn3-in-sca3-mouse-models
#16
Lauren R Moore, Gautam Rajpal, Ian T Dillingham, Maya Qutob, Kate G Blumenstein, Danielle Gattis, Gene Hung, Holly B Kordasiewicz, Henry L Paulson, Hayley S McLoughlin
The most common dominantly inherited ataxia, spinocerebellar ataxia type 3 (SCA3), is an incurable neurodegenerative disorder caused by a CAG repeat expansion in the ATXN3 gene that encodes an abnormally long polyglutamine tract in the disease protein, ATXN3. Mice lacking ATXN3 are phenotypically normal; hence, disease gene suppression offers a compelling approach to slow the neurodegenerative cascade in SCA3. Here we tested antisense oligonucleotides (ASOs) that target human ATXN3 in two complementary mouse models of SCA3: yeast artificial chromosome (YAC) MJD-Q84...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28619276/arginine-vasopressin-relates-with-spatial-learning-and-memory-in-a-mouse-model-of-spinocerebellar-ataxia-type-3
#17
Hong-Bo Jiang, Ai-Lin Du, Hai-Yang Luo, Jun Yang, Xiao-Qiu Luo, Rui-Qing Ma, Chang-He Shi, Yu-Ming Xu
Spinocerebellar ataxia is an inherited neurodegenerative disorder that the most prevalent type is type 3 (SCA3). Arginine vasopressin (AVP) is released within the lateral septum for controlling the learning and memory. This communication studied the effect of AVP on the spatial learning and memory of SCA3 mice. The spatial learning and memory were analyzed by Morris water maze test (MWM), and AVP concentration was measured by radioimmunoassay. The results showed that (Alves et al., 2010) the swimming velocity, distance traveled and latency to the platform of MWM in SCA3 mice were reduced slower than those in WT mice over 4 training days (p<0...
June 6, 2017: Neuropeptides
https://www.readbyqxmd.com/read/28593048/neural-correlates-of-ataxia-severity-in-spinocerebellar-ataxia-type-3-machado-joseph-disease
#18
Carlos R Hernandez-Castillo, Rosalinda Diaz, Aurelio Campos-Romo, Juan Fernandez-Ruiz
BACKGROUND: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant inherited neurodegenerative disorder. Several post-mortem and imaging studies have shown cerebellar and brainstem atrophy. A number of studies have used volumetric regional information to investigate the relationship between neurodegeneration and the ataxia severity. However, regional analysis can obscure the specific location in which the degenerative process is affecting the brain tissue, which can be crucial for the development of new target treatments for this disease...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28449807/cancer-in-machado-joseph-disease-patients-low-frequency-as-a-cause-of-death
#19
Gabriele Nunes Souza, Nathália Kersting, Thomaz Abramsson Gonçalves, Daphne Louise Oliveira Pacheco, Maria-Luiza Saraiva-Pereira, Suzi Alves Camey, Jonas Alex Morales Saute, Laura Bannach Jardim
Since polyglutamine diseases have been related to a reduced risk of cancer, we aimed to study the 15 years cumulative incidence of cancer (CIC) (arm 1) and the proportion of cancer as a cause of death (arm 2) in symptomatic carriers of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). SCA3/MJD and control individuals from our state were invited to participate. A structured interview was performed. CIC as published by the Brazilian National Institute of Cancer, was used as populational control...
April 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28445460/polyglutamine-tracts-regulate-beclin-1-dependent-autophagy
#20
Avraham Ashkenazi, Carla F Bento, Thomas Ricketts, Mariella Vicinanza, Farah Siddiqi, Mariana Pavel, Ferdinando Squitieri, Maarten C Hardenberg, Sara Imarisio, Fiona M Menzies, David C Rubinsztein
Nine neurodegenerative diseases are caused by expanded polyglutamine (polyQ) tracts in different proteins, such as huntingtin in Huntington's disease and ataxin 3 in spinocerebellar ataxia type 3 (SCA3). Age at onset of disease decreases with increasing polyglutamine length in these proteins and the normal length also varies. PolyQ expansions drive pathogenesis in these diseases, as isolated polyQ tracts are toxic, and an N-terminal huntingtin fragment comprising exon 1, which occurs in vivo as a result of alternative splicing, causes toxicity...
May 4, 2017: Nature
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