{"title":"通过功能容量对亨廷顿舞蹈病进行初步的蛋白质组学分析。","authors":"Andrew McGarry, Ruin Moaddel","doi":"10.3390/brainsci15010076","DOIUrl":null,"url":null,"abstract":"<p><p><b>Background:</b> The molecular biology of Huntington's Disease (HD) has grown substantially, with pathological considerations extending to genetic modifiers, epigenetic changes, transcriptomics, the proteome, and the metabolome. The metabolome and proteome are especially intriguing in that they most directly reflect the functional state of the cellular environment, which may involve some combination of pathology as well as compensation. <b>Methods:</b> We assessed CSF proteomics from eight participants by their functional severity (TFC range 3-13), with 47 proteins having a minimum r-value of 0.7 and nominal <i>p</i>-values < 0.05. <b>Results</b>: Our exploratory data reveal correlations between progression and several processes including inflammation, ECM homeostasis and NAD<sup>+</sup> metabolism. <b>Conclusions:</b> Consistently identified targets that correlate with phenotype or progression may have value, if validated, as enrichment tools in clinical trials and potentially as markers of therapeutic response.</p>","PeriodicalId":9095,"journal":{"name":"Brain Sciences","volume":"15 1","pages":""},"PeriodicalIF":2.8000,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11764106/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Pilot Proteomic Analysis of Huntington's Disease by Functional Capacity.\",\"authors\":\"Andrew McGarry, Ruin Moaddel\",\"doi\":\"10.3390/brainsci15010076\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Background:</b> The molecular biology of Huntington's Disease (HD) has grown substantially, with pathological considerations extending to genetic modifiers, epigenetic changes, transcriptomics, the proteome, and the metabolome. The metabolome and proteome are especially intriguing in that they most directly reflect the functional state of the cellular environment, which may involve some combination of pathology as well as compensation. <b>Methods:</b> We assessed CSF proteomics from eight participants by their functional severity (TFC range 3-13), with 47 proteins having a minimum r-value of 0.7 and nominal <i>p</i>-values < 0.05. <b>Results</b>: Our exploratory data reveal correlations between progression and several processes including inflammation, ECM homeostasis and NAD<sup>+</sup> metabolism. <b>Conclusions:</b> Consistently identified targets that correlate with phenotype or progression may have value, if validated, as enrichment tools in clinical trials and potentially as markers of therapeutic response.</p>\",\"PeriodicalId\":9095,\"journal\":{\"name\":\"Brain Sciences\",\"volume\":\"15 1\",\"pages\":\"\"},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2025-01-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11764106/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Brain Sciences\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.3390/brainsci15010076\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"NEUROSCIENCES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Brain Sciences","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3390/brainsci15010076","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"NEUROSCIENCES","Score":null,"Total":0}
A Pilot Proteomic Analysis of Huntington's Disease by Functional Capacity.
Background: The molecular biology of Huntington's Disease (HD) has grown substantially, with pathological considerations extending to genetic modifiers, epigenetic changes, transcriptomics, the proteome, and the metabolome. The metabolome and proteome are especially intriguing in that they most directly reflect the functional state of the cellular environment, which may involve some combination of pathology as well as compensation. Methods: We assessed CSF proteomics from eight participants by their functional severity (TFC range 3-13), with 47 proteins having a minimum r-value of 0.7 and nominal p-values < 0.05. Results: Our exploratory data reveal correlations between progression and several processes including inflammation, ECM homeostasis and NAD+ metabolism. Conclusions: Consistently identified targets that correlate with phenotype or progression may have value, if validated, as enrichment tools in clinical trials and potentially as markers of therapeutic response.
期刊介绍：
Brain Sciences (ISSN 2076-3425) is a peer-reviewed scientific journal that publishes original articles, critical reviews, research notes and short communications in the areas of cognitive neuroscience, developmental neuroscience, molecular and cellular neuroscience, neural engineering, neuroimaging, neurolinguistics, neuropathy, systems neuroscience, and theoretical and computational neuroscience. Our aim is to encourage scientists to publish their experimental and theoretical results in as much detail as possible. There is no restriction on the length of the papers. The full experimental details must be provided so that the results can be reproduced. Electronic files or software regarding the full details of the calculation and experimental procedure, if unable to be published in a normal way, can be deposited as supplementary material.
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