Faculty

Medical Sciences

Supervisor Name

Lisa Hoffman

Keywords

Duchenne Muscular Dystrophy, RNA, fibrosis, biomarkers, therapeutics

Description

Fibrosis is a progressive and typically irreversible disease process characterized by the excessive deposition of collagen in organs and in tissues of the musculoskeletal (MSK) system1,2. This process, which causes loss of organ and tissue function, can be initiated by micro-traumas3, an excessive and/or prolonged immune response1, the activation and proliferation of fibrosis-inducing progenitor cells4, and a pro-fibrotic extra-cellular microenvironment5. In parallel with the events that initiate fibrosis, genetic or environmental influences may cause cells and tissues to become predisposed to fibrosis development prior to initiation. This suggests that these cells and tissues are in a state of prodromal disease6, 7, i.e. a hypersensitive state that is distinct from both active fibrosis and normal homeostasis, where cells and tissues are “primed” for fibrosis development. The ability to detect cells or tissues in this state would be extremely valuable in the clinic, as it would identify patients at risk of fibrosis and facilitate pre-emptive therapeutic interventions before irreversible tissue damage has occurred. Investigation into Duchenne Muscular Dystrophy (DMD) mice models can provide valuable insights into fibrosis. Through analysis and comparison of RNA sequence data from 8-week-old pre-fibrotic mdx mice (dystrophin-/-/utrophin+/+) and wildtype mice (dystrophin+/+/utrophin+/+) potential bio markers for fibrosis can be identified. Future research can be directed towards these bio markers in patients predisposed to or suffering from DMD.

Acknowledgements

Thank you to Dr. Lisa Hoffman, Andrew McClennan and the Western USRI Program for their continuous support.

Comments

References

1. Borthwick LA, Wynn TA, Fisher AJ. Cytokine mediated tissue fibrosis. Biochim Biophys Acta. Oct 6 2012.

2. Leask A, Abraham DJ. TGF-beta signaling and the fibrotic response. Faseb J. May 2004;18(7):816-827.

3. Kramann R, DiRocco DP, Humphreys BD. Understanding the origin, activation and regulation of matrix-producing myofibroblasts for treatment of fibrotic disease. J Pathol. Nov;231(3):273-289.

4. Tsang M. Mesenchymal cells emerge as primary contributors to fibrosis in multiple tissues. J Cell Commun Signal. Mar;8(1):3-4.

5. Huang C, Ogawa R. Fibroproliferative disorders and their mechanobiology. Connect Tissue Res.53(3):187-196.

6. Kudo H, Jinnin M, Asano Y, et al. Decreased interleukin-20 expression in scleroderma skin contributes to cutaneous fibrosis. Arthritis Rheumatol. Jun;66(6):1636-1647.

7. Thiele J, Kvasnicka HM. Myelofibrosis in chronic myeloproliferative disorders--dynamics and clinical impact. Histol Histopathol. Dec 2006;21(12):1367-1378.

Creative Commons License

Creative Commons Attribution-Noncommercial 4.0 License
This work is licensed under a Creative Commons Attribution-Noncommercial 4.0 License

Document Type

Poster

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RNA Isolation in Duchenne Muscular Dystrophy (DMD) Mice Models

Fibrosis is a progressive and typically irreversible disease process characterized by the excessive deposition of collagen in organs and in tissues of the musculoskeletal (MSK) system1,2. This process, which causes loss of organ and tissue function, can be initiated by micro-traumas3, an excessive and/or prolonged immune response1, the activation and proliferation of fibrosis-inducing progenitor cells4, and a pro-fibrotic extra-cellular microenvironment5. In parallel with the events that initiate fibrosis, genetic or environmental influences may cause cells and tissues to become predisposed to fibrosis development prior to initiation. This suggests that these cells and tissues are in a state of prodromal disease6, 7, i.e. a hypersensitive state that is distinct from both active fibrosis and normal homeostasis, where cells and tissues are “primed” for fibrosis development. The ability to detect cells or tissues in this state would be extremely valuable in the clinic, as it would identify patients at risk of fibrosis and facilitate pre-emptive therapeutic interventions before irreversible tissue damage has occurred. Investigation into Duchenne Muscular Dystrophy (DMD) mice models can provide valuable insights into fibrosis. Through analysis and comparison of RNA sequence data from 8-week-old pre-fibrotic mdx mice (dystrophin-/-/utrophin+/+) and wildtype mice (dystrophin+/+/utrophin+/+) potential bio markers for fibrosis can be identified. Future research can be directed towards these bio markers in patients predisposed to or suffering from DMD.

 

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