Molecular signatures of inherited and acquired sporadic late onset
Por um escritor misterioso
Last updated 30 junho 2024
![Molecular signatures of inherited and acquired sporadic late onset](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs40478-023-01518-9/MediaObjects/40478_2023_1518_Fig4_HTML.png)
Acquired sporadic late onset nemaline myopathy (SLONM) and inherited nemaline myopathy (iNM) both feature accumulation of nemaline rods in muscle fibers. Unlike iNM, SLONM is amenable to therapy. The distinction between these disorders is therefore crucial when the diagnosis remains ambiguous after initial investigations. We sought to identify biomarkers facilitating this distinction and to investigate the pathophysiology of nemaline rod formation in these different disorders. Twenty-two muscle samples from patients affected by SLONM or iNM underwent quantitative histological analysis, laser capture microdissection for proteomic analysis of nemaline rod areas and rod-free areas, and transcriptomic analysis. In all iNM samples, nemaline rods were found in subsarcolemmal or central aggregates, whereas they were diffusely distributed within muscle fibers in most SLONM samples. In SLONM, muscle fibers harboring nemaline rods were smaller than those without rods. Necrotic fibers, increased endomysial connective tissue, and atrophic fibers filled with nemaline rods were more common in SLONM. Proteomic analysis detected differentially expressed proteins between nemaline rod areas and rod-free areas, as well as between SLONM and iNM. These differentially expressed proteins implicated immune, structural, metabolic, and cellular processes in disease pathophysiology. Notably, immunoglobulin overexpression with accumulation in nemaline rod areas was detected in SLONM. Transcriptomic analysis corroborated proteomic findings and further revealed substantial gene expression differences between SLONM and iNM. Overall, we identified unique pathological and molecular signatures associated with SLONM and iNM, suggesting distinct underlying pathophysiological mechanisms. These findings represent a step towards enhanced diagnostic tools and towards development of treatments for SLONM.
![Molecular signatures of inherited and acquired sporadic late onset](https://www.pnas.org/cms/asset/f078746c-a7a0-48ef-bb59-0a6a9bd450db/keyimage.jpg)
Ret deficiency decreases neural crest progenitor proliferation and
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Human SOX17 Antibody AF1924: R&D Systems
![Molecular signatures of inherited and acquired sporadic late onset](https://www.frontiersin.org/files/Articles/575620/fendo-11-575620-HTML/image_m/fendo-11-575620-g001.jpg)
Frontiers Molecular Signatures and Their Clinical Utility in
![Molecular signatures of inherited and acquired sporadic late onset](https://www.neurology.org/cms/10.1212/NXI.0000000000001184/asset/3c74af20-227e-4bec-9536-3ebd8f17d25d/assets/graphic/nxi.0000000000001184t1.jpeg)
Clinicopathologic Profiles of Sporadic Late-Onset Nemaline
![Molecular signatures of inherited and acquired sporadic late onset](https://www.nejm.org/na101/home/literatum/publisher/mms/journals/content/nejm/2023/nejm_2023.388.issue-26/nejmra2204787/20230625/images/img_medium/nejmra2204787_f1.jpeg)
Artificial Intelligence in Molecular Medicine
![Molecular signatures of inherited and acquired sporadic late onset](https://www.ahajournals.org/cms/asset/400fcf60-1a93-4058-9b2f-67b25eb05cd0/circresaha.119.315862.fig01.jpg)
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![Molecular signatures of inherited and acquired sporadic late onset](https://www.modernpathology.org/cms/asset/4648d88d-09ac-4fe3-85be-11d146da864e/gr1.jpg)
A pattern-based approach to the interpretation of skeletal muscle
![Molecular signatures of inherited and acquired sporadic late onset](https://www.biorxiv.org/content/biorxiv/early/2023/05/09/2022.05.29.493921/F1.large.jpg)
Topography of mutational signatures in human cancer
![Molecular signatures of inherited and acquired sporadic late onset](https://ars.els-cdn.com/content/image/1-s2.0-S1552526016000790-gr3.jpg)
Molecular genetics of early-onset Alzheimer's disease revisited
![Molecular signatures of inherited and acquired sporadic late onset](https://www.science.org/cms/10.1126/scitranslmed.abq5923/asset/22c396fe-16c8-4946-8e91-228ac8fab1a9/assets/images/large/scitranslmed.abq5923-f2.jpg)
Proteomics of brain, CSF, and plasma identifies molecular
![Molecular signatures of inherited and acquired sporadic late onset](https://focusontoxpath.com/wp-content/uploads/Carcinogenesis-chapter-2013-1.jpg)
Carcinogenesis: Mechanisms and Manifestations - Toxicologic Pathology
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