#huntingtons — Public Fediverse posts
Live and recent posts from across the Fediverse tagged #huntingtons, aggregated by home.social.
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The Human Protein Atlas - Tissue entry for huntingtin states that it has cytoplasmic expression in most tissues:
https://www.proteinatlas.org/ENSG00000197386-HTT/tissueWe know about it because of its role in Huntington disease - a disease that is thought of as being primarily neurological, and is treated by neurologists. However, Huntington disease is a multi-system disorder. Non-CNS pathology includes skeletal muscle atrophy, cardiomyopathy, severe weight loss with altered metabolism, testicular degeneration, and immune cell dysfunction affecting peripheral organs.
Huntington's disease is a multi-system disorder [2015]
https://pmc.ncbi.nlm.nih.gov/articles/PMC4588536/Disruption of immune cell function by mutant huntingtin in Huntington's disease pathogenesis [2016]
https://www.sciencedirect.com/science/article/abs/pii/S14714892150011012/3
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This researcher descended from a family with #Huntingtons . She studied it, she worked with affected families who contributed to the gene hunt.
A very compelling arc.
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RE: https://mastodon.social/@HafizHusnain/115328490796649616
This review connects molecular biology and clinical neuroscience, showing how #miRNAs could transform how we diagnose and treat neurodegenerative diseases.
#Neuroscience #Neurodegeneration #Biomarkers #miRNA #MolecularBiology #Alzheimers #Parkinsons #ALS #Huntingtons #biosensors #NGS #Diagnostics #Therapeutics #AcademicMastodon #OpenScience #springernature
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What went right this week: the good news that matters
https://web.brid.gy/r/https://www.positive.news/society/good-news-stories-from-week-39-of-2025/
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Huntington's disease treated for first time
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It means the decline you would normally expect in one year would take four years after treatment, [..].The first symptoms of Huntington's disease tend to appear in your 30s or 40s and is normally fatal within two decades.
"""Wow, one might then very well merely die "with" it, instead of "from" it.
https://www.bbc.com/news/articles/cevz13xkxpro
via @kottke
#medicine #healthcare #HuntingtonsDisease #Huntingtons #kottke
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Huntington's disease successfully treated for first time
https://www.bbc.com/news/articles/cevz13xkxpro
Holy shit, this is incredible news.
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Treatment for Huntington's disease:
https://www.bbc.com/news/articles/cevz13xkxpro
#Medicine #Huntingtons -
Huntington's disease, a fatal genetic condition, has been successfully treated for the first time. @BBCNews reports on a type of gene therapy developed at University College London that slows the disease by 75% in patients. It offers the first signs of hope for sufferers of this brutal and terrible condition, which kills brain cells, leading to symptoms that resemble dementia, Parkinson's and motor neurone disease, and is usually fatal within two decades of diagnosis.
#Huntingtons #HuntingtonsDisease #Medicine #Health #Science #Genetics #GeneTherapy #GoodNews
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🧓 How aging drives neurodegenerative diseases 🧠
A research team at the University of Cologne has identified a direct molecular link between aging and neurodegeneration by investigating how age-related changes in cell signalling contribute to toxic protein aggregation.
💊 The results could lead to new therapies for #ALS, Huntington's disease and other age-related brain disorders.
Read more ▶️ https://uni.koeln/LFJTT
📰 https://www.nature.com/articles/s43587-025-00943-w -
A Gene Editing Strategy to Repair Huntington's Defects
"A lot more studies would be needed before we can know if disrupting these repeats with a base editor could be a viable therapeutic strategy to treat patients. But being able to illuminate the biological consequences of interrupted repeats is a really useful and important milestone," explained senior study author Dr David Liu.
#CRISPR #genetics #research #biology #biotechnology #science #Huntingtons -
🧠 Review alert! Our article explores microRNAs (miRNAs) as early, non-invasive biomarkers for neurodegenerative diseases like Alzheimer’s & Parkinson’s. A step toward next-gen diagnostics & precision medicine!
🔗https://doi.org/10.3389/fnmol.2024.1386735
#MicroRNA #Neurodegeneration #PostTranslationalModifications #AgingAndDisease #MolecularNeuroscience #RNARegulation #GeneExpression #Biomarkers #Alzheimers #Parkinsons #Multiplesclerosis #Huntingtons #EarlyDiagnosis #ScientificResearch #FrontiersInNeuroscience -
new paper: "A collaborative network analysis for the interpretation of transcriptomics data in Huntington’s disease" https://doi.org/10.1038/s41598-025-85580-4
"our study shows that collaborative network analysis approaches are well-suited to study rare diseases, as they provide hypotheses for pathogenic mechanisms from multiple perspectives."
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"Exon skipping only works if the resulting protein is still functional, so it can't treat every disease with a genetic basis. That's the overall limitation of the approach," noted Professor Pablo Perez-Pinera.
"But for diseases like #Alzheimer's, #Parkinson's, #Huntingtons, or Duchenne's muscular dystrophy, this approach holds a lot of potential."
#genetics #health #medicine #biotechnology #research #science #biology -
Been on a punk rock kick for the last few days. These two albums have gotta be some of the best in the genre! 🤘
#punk #rock #punkrock #huntingtons #mxpx #skatepunk #music #toothandnail
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With organoids, researchers aim to bridge the gaps in knowledge that arise from using animals. These are simplified, miniaturized models of human organs that are created by genetically altering cells. Now, they have provided unexpected new insights into Huntington's disease.
#research #biology #Huntingtons #disease #genetics #medicine #health
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The first indication of a possible link between #MyalgicEncephalomyelitis and #CNS diseases:
“However, one new association was found, with the gene #PDE10A, which is implicated in #CentralNervousSystem diseases, such as #Parkinsons and #Huntingtons disease. This association has never been seen before, and would require replication in a new cohort before its role in #MECFS could be confirmed.“
https://era.ed.ac.uk/bitstream/handle/1842/39763/DibbleJJ_2022.pdf?sequence=1&isAllowed=y
