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What has the mdx mouse model of duchenne muscular dystrophy contributed to our understanding of this disease?

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Abstract

Duchenne muscular dystrophy (DMD) is a fatal X-chromosome linked recessive disorder caused by the truncation or deletion of the dystrophin gene. The most widely used animal model of this disease is the dystrophin-deficient mdx mouse which was first discovered 30 years ago. Despite its extensive use in DMD research, no effective treatment has yet been developed for this devastating disease. This review explores what we have learned from this mouse model regarding the pathophysiology of DMD and asks if it has a future in providing a better more thorough understanding of this disease or if it will bring us any closer to improving the outlook for DMD patients.

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Abbreviations

Ca2+ :

Calcium

CRF:

Corticotrophin releasing factor

CRFR:

CRF receptor

CRP:

C-reactive protein

GI:

Gastrointestinal

HPA:

Hypothalamic-pituitary-adrenal

IL:

Interleukin

IL-6R:

Interleukin-6 receptor

TTX:

Tetrodotoxin

xIL-6R:

Anti-IL-6R

GRMD:

Golden retriever muscular dystrophy

DAPC:

Dystrophin associated protein complex

ECG:

Electrocardiogram

ACE:

Angiotensin-converting enzyme

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Conflict of interest

The authors have no financial, professional or personal conflicts relating to this publication.

Grant support

J.M. was part funded by the Department of Physiology, UCC and Muscular Dystrophy Ireland.

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Authors and Affiliations

  1. Department of Physiology, University College Cork, 4.23 Western Gateway Building, Cork, Ireland

    Jennifer Manning & Dervla O’Malley

  2. Alimentary Pharmabiotic Centre, University College Cork, Cork, Ireland

    Dervla O’Malley

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  1. Jennifer Manning
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  2. Dervla O’Malley
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Correspondence to Dervla O’Malley.

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Manning, J., O’Malley, D. What has the mdx mouse model of duchenne muscular dystrophy contributed to our understanding of this disease?. J Muscle Res Cell Motil 36, 155–167 (2015). https://doi.org/10.1007/s10974-015-9406-4

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  • DOI: https://doi.org/10.1007/s10974-015-9406-4

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