Gene therapy for the muscular dystrophies

Published on September 3, 2014   66 min

A selection of talks on Neurology

Please wait while the transcript is being prepared...
My name is Jeff Chamberlain and I'm at the University of Washington. I'm going to discuss gene therapy for the muscular dystrophies. Most of my lecture will focus on Duchenne muscular dystrophy, which is the most common form.
The muscular dystrophies are a group of single-gene inherited disorders. There are many different types of muscular dystrophy, several of which have still not been identified. Most of the different types of muscular dystrophy cannot be distinguished at a clinical level and that requires genetic testing to tell which type an individual has. The muscular dystrophies share the common feature of having progressive muscle weakness. It generally affects the skeletal or the limb muscles, but it can also affect cardiac and smooth muscles. Sometimes the central nervous system is involved, particularly in the early onset or the congenital muscular dystrophies. Different types of muscular dystrophy can arise either soon after birth, in childhood, or in older individuals. And even though the muscles are the same in every person, the different types of muscular dystrophy can have different effects on different muscles.
As shown in this slide, there are many different types of muscular dystrophy characterized by a variety of different names. At the top, I've highlighted Duchenne Muscular Dystrophy, or DMD, as well as limb-girdle muscular dystrophy. These tend to be the most common of the recessively inherited the muscular dystrophies. There are many different types of limb-girdle muscular dystrophy, and the list keeps growing as more genes are identified as causing these disorders. At the bottom of the list are indicated FSHD and DM. These represent facioscapulohumeral muscular dystrophy and myotonic dystrophy. These are the two most common dominantly inherited muscular dystrophies. And even though this slide, which is somewhat old, indicates that the FSHD gene was not known. It has in the last few years been shown to be caused by altered copy number of the DUX4 gene.