Researchers are exploring whether these ubiquitous fluorinated molecules might worsen infections or hamper vaccine effectiveness.
Image credit: Shutterstock/Dmitry Naumov.
Duchenne muscular dystrophy (DMD) is an X chromosome-linked disease, and it is the most common form of muscular dystrophy caused by genetic mutations in the Dmd gene (1). The Dmd gene contains 79 exons, spans 2.4 Mb, and is the single largest gene in the human genome (2). This gene encodes for dystrophin, which is a component of the dystrophin–glycoprotein complex that provides structural stability to the cell membrane (by connecting the cytoskeleton and the extracellular matrix), and a dysfunctional or absent dystrophin protein leads to progressive muscle wasting with cycles of muscle degeneration and regeneration that ultimately fail (3, 4). Young boys with DMD lose their ability to ambulate, become wheelchair bound, and die prematurely (1, 5). This disease affects skeletal muscle, which is the single largest organ in the body, and it normally has a remarkable capacity for regeneration (6). In response to a severe injury caused by genetic disorders, trauma, or exposure to toxins that destroys over 90% of the muscle, the cytoarchitecture of the injured tissue is completely restored and is indistinguishable compared to uninjured muscle within a 2- to 4-wk period. This regenerative capacity is due to the myogenic stem cell population (i.e., satellite cells) that is resident in adult skeletal muscle, and with repeated DMD-mediated degeneration and regeneration this regenerative process ultimately is exhausted (6). While a number of studies have enhanced our understanding of the myogenic stem cell population, new insights are needed regarding the factors that govern muscle regeneration and potentially serve as therapies for diseases like DMD. In PNAS, Chemello et al. (7) use emerging technologies to provide a discovery science platform. First, they engineered a mouse model by deleting exon 51 of the Dmd gene. This gene-edited mouse (ΔEx51) was viable, lacked dystrophin in skeletal muscle and heart, …
↵1To whom correspondence may be addressed. Email: garry{at}umn.edu.
References
Log in using your username and password
Log in through your institution
You may be able to gain access using your login credentials for your institution. Contact your library if you do not have a username and password.
If your organization uses OpenAthens, you can log in using your OpenAthens username and password. To check if your institution is supported, please see this list. Contact your library for more details.
Purchase access
You may purchase access to this article. This will require you to create an account if you don't already have one.
Decoding DMD transcriptional networks using single‐nucleus RNA sequencing
Article Classifications
- Biological Sciences
- Cell Biology
Sign up for Article Alerts
Jump to section
You May Also be Interested in
Recent experiments and simulations are starting to answer some fundamental questions about how life came to be.
Image credit: Shutterstock/Radoslaw Lecyk.
Archaeologists have long tried to define the transition between the two time periods.
Image credit: Ceri Shipton.
Adam Mastroianni and Daniel Gilbert explore why conversations almost never end when people want them to.
A study finds that giant pandas roll in horse manure to increase their cold tolerance.
Image credit: Fuwen Wei.
See related content: