A Pilot Proteomic Analysis of Huntington’s Disease by Functional Capacity
<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...
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MDPI AG
2025-01-01
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| author | Andrew McGarry Ruin Moaddel |
| author_facet | Andrew McGarry Ruin Moaddel |
| author_sort | Andrew McGarry |
| collection | DOAJ |
| description | <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. |
| format | Article |
| id | doaj-art-9369109ba9504d89a3543884ffd05c35 |
| institution | Kabale University |
| issn | 2076-3425 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Brain Sciences |
| spelling | doaj-art-9369109ba9504d89a3543884ffd05c352025-01-24T13:25:53ZengMDPI AGBrain Sciences2076-34252025-01-011517610.3390/brainsci15010076A Pilot Proteomic Analysis of Huntington’s Disease by Functional CapacityAndrew McGarry0Ruin Moaddel1Cooper University Healthcare at Rowan University, Camden, NJ 08103, USABiomedical Research Center, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA<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.https://www.mdpi.com/2076-3425/15/1/76HDcerebrospinal fluidinflammationNAD<sup>+</sup> metabolismTFC score |
| spellingShingle | Andrew McGarry Ruin Moaddel A Pilot Proteomic Analysis of Huntington’s Disease by Functional Capacity Brain Sciences HD cerebrospinal fluid inflammation NAD<sup>+</sup> metabolism TFC score |
| title | A Pilot Proteomic Analysis of Huntington’s Disease by Functional Capacity |
| title_full | A Pilot Proteomic Analysis of Huntington’s Disease by Functional Capacity |
| title_fullStr | A Pilot Proteomic Analysis of Huntington’s Disease by Functional Capacity |
| title_full_unstemmed | A Pilot Proteomic Analysis of Huntington’s Disease by Functional Capacity |
| title_short | A Pilot Proteomic Analysis of Huntington’s Disease by Functional Capacity |
| title_sort | pilot proteomic analysis of huntington s disease by functional capacity |
| topic | HD cerebrospinal fluid inflammation NAD<sup>+</sup> metabolism TFC score |
| url | https://www.mdpi.com/2076-3425/15/1/76 |
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