Question

One of the mutations causing Duchenne muscular dystrophy is a loss-of-function nonsense mutation in exon 23. Using a mouse model, how has this disease been treated?

Answer 1

Duchenne muscular dystrophy can be treated in a mouse model by enhancing the production of utrophin to prevent muscle damage caused by a lack of dystrophin, while gene therapy represents another potential treatment approach.

Step-by-step explanation:

Duchenne muscular dystrophy (DMD) is a condition characterized by progressive muscular degeneration and weakness caused by a genetic mutation that affects the production of dystrophin, a protein essential for muscle function. One of the approaches to treat DMD in a mouse model involves boosting the production of utrophin, a protein similar to dystrophin, which could compensate for the lack of dystrophin and prevent cellular damage. While earlier strategies like introducing healthy myoblasts into patients showed limited success, this utrophin modulation strategy represents a promising area of research for potential therapies.

Other treatment methods considered for muscular dystrophies include gene therapy, where the correct version of the dystrophin gene is inserted into the cells using a viral vector. This technique is part of an emerging field of therapies targeting diseases caused by single-gene defects and could introduce healthy genes to produce the necessary proteins that are absent due to genetic mutations.