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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/
(Score: 0) by Anonymous Coward on Thursday September 28 2017, @11:52AM (1 child)
The title gsve me the idea of people finding "muscle genes" in the brain, then concluding the brain needs to be exercised like a muscle.
(Score: 2) by driverless on Friday September 29 2017, @08:11AM
It's pretty simple actually, it's a male protein, it got lost on the way to the muscles, and it didn't want to stop and ask for directions.
(Score: 0) by Anonymous Coward on Thursday September 28 2017, @12:54PM (1 child)
(Score: 2) by takyon on Thursday September 28 2017, @02:07PM
💉💊🧠 done
[SIG] 10/28/2017: Soylent Upgrade v14 [soylentnews.org]
(Score: 2, Funny) by Anonymous Coward on Thursday September 28 2017, @01:56PM
It is what is called Muscle Memory. After you've practiced some action (like typing on the keyboard), a tiny muscle is created in the brain that remembers how to move the fingers.
Then when you want to type something, you just think about the words and letters you want to write, and the tiny muscle in the brain is sent these instructions. It decodes the words and letters into Morse Code and moves itself, thereby clicking the various neurons controlling the hands and fingers.
This is how you are able to type so fast without thinking about it. It is called muscle memory.
(Score: 2) by leftover on Thursday September 28 2017, @03:01PM
Maybe it is there to provide a little bit of structural strength to gangly (pun intended) nerve cells.
Bent, folded, spindled, and mutilated.
(Score: 0) by Anonymous Coward on Thursday September 28 2017, @03:29PM
They've raised $622 out of their goal for $1000 so far.
This project doesn't seem like it is very worthwhile, but it is still better than just "raising awareness".