| Title | What is a Muscle Protein Doing in the Brain? | |
| Date | Thursday September 28 2017, @09:36AM | |
| Author | martyb | |
| Topic | ||
| from the meatheads dept. | ||
Brain involvement in Duchenne muscular dystrophy was described by Duchenne de Boulogne himself in 1886. It has been largely ignored.
Duchenne muscular dystrophy (DMD) is a fatal genetic disorder that predominantly affects male children. There is no cure. Besides severe muscle wasting, the disease also affects the brain.
DMD is caused by DNA mutations that result in the body-wide loss of a protein called dystrophin. Dystrophin is essential for muscle strength and function. It acts like a shock absorber, without it muscles become weak and break down. Most affected children will be in wheelchairs by their early teens with death typically occurring in early adulthood because of complications with the heart or lungs.
Duchenne is first and foremost a muscle disorder, but the intelligence of individuals with the disease is lower than the general population. Intellectual disability, epilepsy, autism and attention deficit hyperactivity disorder are also common. Mounting evidence links these symptoms to the loss of dystrophin in the brain. But given the more urgent need to treat the muscles, brain involvement in DMD has been ignored.
So what does dystrophin do in the brain and why is its loss linked to cognitive and behavioural problems? We understand very little. Unlike muscle, the brain produces several different types, or isoforms, of dystrophin. These are found in different regions of the brain, and in different parts of the cell. Proposed functions are therefore diverse and range from a scaffolding function in the nucleus to roles in synapse activity.
[...] The lack of understanding of how dystrophin functions in the brain is a major roadblock to the development of effective whole-body treatments. There is an urgent need for fundamental research in this area. My postgraduate research student, Amanda Ash, and I have this month launched a crowdfunding campaign to raise awareness and funds to help kick start such work. The platform, Experiment, recently surpassed £1,000,000 in total funding raised. Scientists using the platform have been featured in The Economist, Forbes, Nature, and The New York Times.
https://thebiochemistblog.com/2017/09/07/what-is-a-muscle-protein-doing-in-the-brain/
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