From My Science Readings This Week
Scientists have found a new brain disease in three children that affects their speech, movement, and learning. This condition is caused by a change in a gene called ATG4D, which stops brain cells from doing something very important: cleaning up and recycling old or damaged parts. This process, called autophagy, helps keep cells healthy, but in these kids, it doesn’t work properly in the brain.
The first child began having symptoms at age three, including walking problems, staring spells, and trouble speaking clearly. As he got older, he had seizures and was diagnosed with ADHD and other learning issues. His sister, though, didn’t show signs of the disease. The other two children, who are also sisters, had trouble walking, unusual hand movements, and issues speaking. One of them mostly recovered her movement skills, but still has problems with speech.
When scientists studied the kids’ genes, they found they all had the same mutation. They tested this in the lab and confirmed that it blocked the brain’s ability to clean its cells properly. Interestingly, this same gene mutation was found in a type of dog years ago, and those dogs also had trouble with movement and eye control.
This discovery may not only help these children, but also give clues about other brain diseases like Alzheimer’s and Parkinson’s, which are also linked to problems with autophagy. Scientists hope to find more children with the same condition so they can keep learning and maybe develop treatments. This genetic aberration is similar to glutaric aciduria type I discussed recently.
Meanwhile Did you know that......
The 2024 Nobel Prize in Chemistry was awarded to David Baker “for computational protein design" and Demis Hassabis and John Jumper “for protein structure prediction.” One of the fundamental tenets of chemistry is that structure predicts function;
Lastly, Did you know that.....
Michelangelo: The Gay Icon Behind the Sistine Chapel 
This Renaissance master wasn't just revolutionary in art - his desire and identity shaped his masterpieces in fascinating ways:





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