keyword
https://read.qxmd.com/read/38534313/intravenous-msc-treatment-improves-impaired-brain-functions-in-the-r6-2-mouse-model-of-huntington-s-disease-via-recovered-hepatic-pathological-changes
#1
JOURNAL ARTICLE
Libo Yu-Taeger, Ali El-Ayoubi, Pengfei Qi, Lusine Danielyan, Hoa Huu Phuc Nguyen
Huntington's disease (HD), a congenital neurodegenerative disorder, extends its pathological damages beyond the nervous system. The systematic manifestation of HD has been extensively described in numerous studies, including dysfunction in peripheral organs and peripheral inflammation. Gut dysbiosis and the gut-liver-brain axis have garnered greater emphasis in neurodegenerative research, and increased plasma levels of pro-inflammatory cytokines have been identified in HD patients and various in vivo models, correlating with disease progression...
March 7, 2024: Cells
https://read.qxmd.com/read/38532785/nebulization-of-low-dose-aspirin-ameliorates-huntington-s-pathology-in-n171-82q-transgenic-mice
#2
JOURNAL ARTICLE
Susanta Mondal, Shelby Prieto, Suresh B Rangasamy, Debashis Dutta, Kalipada Pahan
Huntington Disease (HD), a devastating hereditary neurodegenerative disorder, is caused by expanded CAG trinucleotide repeats in the huntingtin gene ( Htt ) on chromosome 4. Currently, there is no effective therapy for HD. Although aspirin, acetylsalicylic acid, is one of the most widely-used analgesics throughout the world, it has some side effects. Even at low doses, oral aspirin can cause gastrointestinal symptoms, such as heartburn, upset stomach, or pain. Therefore, to bypass the direct exposure of aspirin to stomach, here, we described a new mode of use of aspirin and demonstrated that nebulization of low-dose of aspirin (10 μg/mouse/d=0...
March 2024: NeuroImmune Pharm Ther
https://read.qxmd.com/read/38517798/assessment-of-perivascular-space-morphometry-across-the-white-matter-in-huntington-s-disease-using-mri
#3
JOURNAL ARTICLE
Annabelle Coleman, Mackenzie T Langan, Gaurav Verma, Harry Knights, Aaron Sturrock, Blair R Leavitt, Sarah J Tabrizi, Rachael I Scahill, Nicola Z Hobbs
BACKGROUND: Perivascular spaces (PVS) are fluid-filled cavities surrounding small cerebral blood vessels. There are limited reports of enlarged PVS across the grey matter in manifest Huntington's disease (HD). Little is known about how PVS morphometry in the white matter may contribute to HD. Enlarged PVS have the potential to both contribute to HD pathology and affect the distribution and success of intraparenchymal and intrathecally administered huntingtin-lowering therapies. OBJECTIVE: To investigate PVS morphometry in the global white matter across the spectrum of HD...
March 19, 2024: Journal of Huntington's Disease
https://read.qxmd.com/read/38505261/editorial-proteins-and-protein-complexes-underlying-mitochondrial-structure-function-and-metabolism-implications-in-diseases
#4
EDITORIAL
Mohammad Golam Sabbir, Nawab John Dar, Shahnawaz Ali Bhat, Hamad H Alanazi, Jeff Perry
No abstract text is available yet for this article.
2024: Frontiers in Cell and Developmental Biology
https://read.qxmd.com/read/38498709/mutant-huntingtin-protein-induces-mlh1-degradation-dna-hyperexcision-and-cgas-sting-dependent-apoptosis
#5
JOURNAL ARTICLE
Xiao Sun, Lu Liu, Chao Wu, Xueying Li, Jinzhen Guo, Junqiu Zhang, Junhong Guan, Nan Wang, Liya Gu, X Willian Yang, Guo-Min Li
Huntington's disease (HD) is an inherited neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin ( HTT ) gene. The repeat-expanded HTT encodes a mutated HTT (mHTT), which is known to induce DNA double-strand breaks (DSBs), activation of the cGAS-STING pathway, and apoptosis in HD. However, the mechanism by which mHTT triggers these events is unknown. Here, we show that HTT interacts with both exonuclease 1 (Exo1) and MutLα (MLH1-PMS2), a negative regulator of Exo1. While the HTT-Exo1 interaction suppresses the Exo1-catalyzed DNA end resection during DSB repair, the HTT-MutLα interaction functions to stabilize MLH1...
March 26, 2024: Proceedings of the National Academy of Sciences of the United States of America
https://read.qxmd.com/read/38489193/effects-of-an-angiotensin-iv-analog-on-3-nitropropionic-acid-induced-huntington-s-disease-like-symptoms-in-rats
#6
JOURNAL ARTICLE
Russell G Wells, Azzam F Azzam, Amie L Hiller, Michael F Sardinia
BACKGROUND: Huntington's disease (HD) is a neurodegenerative disorder characterized by motor, cognitive, and psychiatric dysfunction caused by a mutant huntingtin protein. Compromised metabolic activity resulting from systemic administration of the mitochondrial toxin, 3-nitropropionic acid (3-NP), is known to mimic the pathology of HD and induce HD-like symptoms in rats. N-hexanoic-Tyr-Ile-(6)-amino hexanoic amide (PNB-0408), also known as Dihexa, has been shown to have neuroprotective and procognitive properties in animal models of Alzheimer's and Parkinson's diseases...
March 10, 2024: Journal of Huntington's Disease
https://read.qxmd.com/read/38485497/large-animal-models-for-huntington-s-disease-research
#7
REVIEW
Bofeng Han, Weien Liang, Xiao-Jiang Li, Shihua Li, Sen Yan, Zhuchi Tu
Huntington's disease (HD) is a hereditary neurodegenerative disorder for which there is currently no effective treatment available. Consequently, the development of appropriate disease models is critical to thoroughly investigate disease progression. The genetic basis of HD involves the abnormal expansion of CAG repeats in the huntingtin ( HTT ) gene, leading to the expansion of a polyglutamine repeat in the HTT protein. Mutant HTT carrying the expanded polyglutamine repeat undergoes misfolding and forms aggregates in the brain, which precipitate selective neuronal loss in specific brain regions...
March 18, 2024: Zoological Research
https://read.qxmd.com/read/38483973/the-polyglutamine-domain-is-the-primary-driver-of-seeding-in-huntingtin-aggregation
#8
JOURNAL ARTICLE
Adam Skeens, Chathuranga Siriwardhana, Sophia E Massinople, Michelle M Wunder, Zachary L Ellis, Kaitlyn M Keith, Tyler Girman, Shelli L Frey, Justin Legleiter
Huntington's Disease (HD) is a fatal, neurodegenerative disease caused by aggregation of the huntingtin protein (htt) with an expanded polyglutamine (polyQ) domain into amyloid fibrils. Htt aggregation is modified by flanking sequences surrounding the polyQ domain as well as the binding of htt to lipid membranes. Upon fibrillization, htt fibrils are able to template the aggregation of monomers into fibrils in a phenomenon known as seeding, and this process appears to play a critical role in cell-to-cell spread of HD...
2024: PloS One
https://read.qxmd.com/read/38476051/nucleation-of-huntingtin-aggregation-proceeds-via-conformational-conversion-of-pre-formed-sparsely-populated-tetramers
#9
JOURNAL ARTICLE
Francesco Torricella, Vitali Tugarinov, G Marius Clore
Pathogenic huntingtin exon-1 protein (httex1 ), characterized by an expanded polyglutamine tract located between the N-terminal amphiphilic region and a C-terminal polyproline-rich domain, forms fibrils that accumulate in neuronal inclusion bodies, and is associated with a fatal, autosomal dominant neurodegenerative condition known as Huntington's disease. Here a complete kinetic model is described for aggregation/fibril formation of a httex1 construct with a 35-residue polyglutamine repeat, httex1 Q35 . Using exchange NMR spectroscopy, it is previously shown that the reversible formation of a sparsely-populated tetramer of the N-terminal amphiphilic domain of httex1 Q35 , comprising a D2 symmetric four-helix bundle, occurs on the microsecond time-scale and is a prerequisite for subsequent nucleation and fibril formation on a time scale that is many orders of magnitude slower (hours)...
March 12, 2024: Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
https://read.qxmd.com/read/38467209/exosome-mediated-delivery-and-regulation-in-neurological-disease-progression
#10
REVIEW
Gurpreet Singh, Ankit Mehra, Sanchit Arora, Dalapathi Gugulothu, Lalitkumar Vora, Renuka Prasad, Dharmendra Kumar Khatri
Exosomes (EXOs), minute membranous structures originating from diverse biological sources, have recently seized the attention of researchers due to their theranostic potential for neurological diseases. Released actively by various cells, including stem cells, adipose tissue, and immune cells, EXOs wield substantial regulatory influence over the intricate landscape of neurological complications, exhibiting both positive and negative modulatory effects. In AD, EXOs play a pivotal role in disseminating and breaking down amyloid-β protein...
March 9, 2024: International Journal of Biological Macromolecules
https://read.qxmd.com/read/38461512/alterations-in-cerebrospinal-fluid-urea-occur-in-late-manifest-huntington-s-disease
#11
JOURNAL ARTICLE
Anna C Pfalzer, Shuhei Shiino, James Silverman, Simona G Codreanu, Stacy D Sherrod, John A McLean, Daniel O Claassen
BACKGROUND: Huntington's disease (HD) is a neurodegenerative disorder caused by expanded cytosine-adenine-guanine (CAG) repeats in the Huntingtin gene, resulting in the production of mutant huntingtin proteins (mHTT). Previous research has identified urea as a key metabolite elevated in HD animal models and postmortem tissues of HD patients. However, the relationship between disease course and urea elevations, along with the molecular mechanisms responsible for these disturbances remain unknown...
March 2, 2024: Journal of Huntington's Disease
https://read.qxmd.com/read/38459557/tyrobp-dap12-knockout-in-huntington-s-disease-q175-mice-cell-autonomously-decreases-microglial-expression-of-disease-associated-genes-and-non-cell-autonomously-mitigates-astrogliosis-and-motor-deterioration
#12
JOURNAL ARTICLE
Jordi Creus-Muncunill, Jean Vianney Haure-Mirande, Daniele Mattei, Joanna Bons, Angie V Ramirez, B Wade Hamilton, Chuhyon Corwin, Sarah Chowdhury, Birgit Schilling, Lisa M Ellerby, Michelle E Ehrlich
INTRODUCTION: Huntington's disease (HD) is a fatal neurodegenerative disorder caused by an expansion of the CAG trinucleotide repeat in the Huntingtin gene (HTT). Immune activation is abundant in the striatum of HD patients. Detection of active microglia at presymptomatic stages suggests that microgliosis is a key early driver of neuronal dysfunction and degeneration. Recent studies showed that deletion of Tyrobp, a microglial protein, ameliorates neuronal dysfunction in Alzheimer's disease amyloidopathy and tauopathy mouse models while decreasing components of the complement subnetwork...
March 8, 2024: Journal of Neuroinflammation
https://read.qxmd.com/read/38459427/huntingtin-htt1a-is-generated-in-a-cag-repeat-length-dependent-manner-in-human-tissues
#13
JOURNAL ARTICLE
Franziska Hoschek, Julia Natan, Maximilian Wagner, Kirupa Sathasivam, Alshaimaa Abdelmoez, Björn von Einem, Gillian P Bates, G Bernhard Landwehrmeyer, Andreas Neueder
BACKGROUND: The disease-causing mutation in Huntington disease (HD) is a CAG trinucleotide expansion in the huntingtin (HTT) gene. The mutated CAG tract results in the production of a small RNA, HTT1a, coding for only exon 1 of HTT. HTT1a is generated by a block in the splicing reaction of HTT exon 1 to exon 2 followed by cleavage in intron 1 and polyadenylation. Translation of HTT1a leads to the expression of the highly toxic HTT exon 1 protein fragment. We have previously shown that the levels of HTT1a expression in mouse models of HD is dependent on the CAG repeat length...
March 8, 2024: Molecular Medicine
https://read.qxmd.com/read/38447791/ribosome-profiling-and-mass-spectrometry-reveal-widespread-mitochondrial-translation-defects-in-a-striatal-cell-model-of-huntington-disease
#14
JOURNAL ARTICLE
Sunayana Dagar, Manish Sharma, George Tsaprailis, Catherina Scharager Tapia, Gogce Crynen, Preksha Sandipkumar Joshi, Neelam Shahani, Srinivasa Subramaniam
Huntington disease (HD) is caused by an expanded polyglutamine mutation in huntingtin (mHTT) that promotes prominent atrophy in the striatum and subsequent psychiatric, cognitive, and choreiform movements. Multiple lines of evidence point to an association between HD and aberrant striatal mitochondrial functions; however, the present knowledge about whether (or how) mitochondrial mRNA translation is differentially regulated in HD remains unclear. We found that protein synthesis is diminished in HD mitochondria compared to healthy control striatal cell models...
March 4, 2024: Molecular & Cellular Proteomics: MCP
https://read.qxmd.com/read/38434042/disrupted-nuclear-import-of-cell-cycle-proteins-in-huntington-s-polyq-disease-causes-neurodevelopment-defects-in-cellular-and-drosophila-model
#15
JOURNAL ARTICLE
Sandeep Kumar Dubey, Thomas E Lloyd, Madhu G Tapadia
Huntington's disease is caused by an expansion of CAG repeats in exon 1 of the huntingtin gene encoding an extended PolyQ tract within the Huntingtin protein (mHtt). This expansion results in selective degeneration of striatal medium spiny projection neurons in the basal ganglia. The mutation causes abnormalities during neurodevelopment in human and mouse models. Here, we report that mHtt/PolyQ aggregates inhibit the cell cycle in the Drosophila brain during development. PolyQ aggregates disrupt the nuclear pore complexes of the cells preventing the translocation of cell cycle proteins such as Cyclin E, E2F and PCNA from cytoplasm to the nucleus, thus affecting cell cycle progression...
February 29, 2024: Heliyon
https://read.qxmd.com/read/38427495/mono-and-biallelic-inactivation-of-huntingtin-gene-in-patient-specific-induced-pluripotent-stem-cells-reveal-htt-roles-in-striatal-development-and-neuronal-functions
#16
JOURNAL ARTICLE
Morgane Louessard, Michel Cailleret, Margot Jarrige, Julie Bigarreau, Sophie Lenoir, Noëlle Dufour, Maria Rey, Frédéric Saudou, Nicole Deglon, Anselme L Perrier
BACKGROUND: Mutations in the Huntingtin (HTT) gene cause Huntington's disease (HD), a neurodegenerative disorder. As a scaffold protein, HTT is involved in numerous cellular functions, but its normal and pathogenic functions during human forebrain development are poorly understood. OBJECTIVE: To investigate the developmental component of HD, with a specific emphasis on understanding the functions of wild-type and mutant HTT alleles during forebrain neuron development in individuals carrying HD mutations...
February 24, 2024: Journal of Huntington's Disease
https://read.qxmd.com/read/38427253/imaging-and-assay-of-the-dynamics-of-cytotoxic-huntingtin-htt-protein-aggregates-regulated-by-lncrnas
#17
JOURNAL ARTICLE
Kaushik Chanda, Debashis Mukhopadhyay
Huntington's disease (HD) pathogenesis involves deregulation of coding and noncoding RNA transcripts of which the involvement of long noncoding RNAs (lncRNA) has been realized recently. Of these, Meg3, Neat1, and Xist showed a consistent and significant increase in HD cell and animal models. In the present study, we formulate a methodology to visualize and quantify intracellular aggregates formed by mutant HTT protein. This method employs the use of both confocal laser scanning and super resolution (N-SIM) microscopy to accurately estimate aggregate numbers...
2024: Methods in Molecular Biology
https://read.qxmd.com/read/38419038/elevated-slc7a2-expression-is-associated-with-an-abnormal-neuroinflammatory-response-and-nitrosative-stress-in-huntington-s-disease
#18
JOURNAL ARTICLE
Ian D Gaudet, Hongyuan Xu, Emily Gordon, Gianna A Cannestro, Michael L Lu, Jianning Wei
We previously identified solute carrier family 7 member 2 (SLC7A2) as one of the top upregulated genes when normal Huntingtin was deleted. SLC7A2 has a high affinity for L-arginine. Arginine is implicated in inflammatory responses, and SLC7A2 is an important regulator of innate and adaptive immunity in macrophages. Although neuroinflammation is clearly demonstrated in animal models and patients with Huntington's disease (HD), the question of whether neuroinflammation actively participates in HD pathogenesis is a topic of ongoing research and debate...
February 28, 2024: Journal of Neuroinflammation
https://read.qxmd.com/read/38418081/huntingtin-cag-repeats-in-neuropathologically-confirmed-tauopathies-novel-insights
#19
JOURNAL ARTICLE
Sergio Pérez-Oliveira, Juan Castilla-Silgado, Cèlia Painous, Iban Aldecoa, Manuel Menéndez-González, Marta Blázquez-Estrada, Daniela Corte, Cristina Tomás-Zapico, Yaroslau Compta, Esteban Muñoz, Albert Lladó, Mircea Balasa, Gemma Aragonès, Pablo García-González, Maitée Rosende-Roca, Mercè Boada, Agustín Ruíz, Pau Pastor, Beatriz De la Casa-Fages, Alberto Rabano, Raquel Sánchez-Valle, Laura Molina-Porcel, Victoria Álvarez
Previous studies have suggested a relationship between the number of CAG triplet repeats in the HTT gene and neurodegenerative diseases not related to Huntington's disease (HD). This study seeks to investigate whether the number of CAG repeats of HTT is associated with the risk of developing certain tauopathies and its influence as a modulator of the clinical and neuropathological phenotype. Additionally, it aims to evaluate the potential of polyglutamine staining as a neuropathological screening. We genotyped the HTT gene CAG repeat number and APOE-ℰ isoforms in a cohort of patients with neuropathological diagnoses of tauopathies (n=588), including 34 corticobasal degeneration (CBD), 98 progressive supranuclear palsy (PSP) and 456 Alzheimer's disease (AD)...
February 28, 2024: Brain Pathology
https://read.qxmd.com/read/38416505/childhood-onset-huntignton%C3%A2-s-disease-a-rare-presentation
#20
A Gauto, E Bellantonio, P Pedernera-Bradichansky, P Cafiero, E Rodriguez, P Massaro
INTRODUCTION: Huntington's disease (HD) is a rare autosomal dominant disease caused by the expansion of CAG triplets in the gene that encodes huntingtin. There are earlier symptoms' onset in offspring due to the phenomenon of anticipation. The clinical features of childhood-onset HD, before age 10 years, differs from adult-onset form. It is characterized by motor impairment, behavioral difficulties and delay or regression in areas of development; while chorea is rarely seen. In this case we describe clinical aspects of a patient with childhood-onset Huntington's disease...
March 1, 2024: Revista de Neurologia
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