New Genetic Disease in Children- Michelangelo Desires

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.

https://chateaudumer.blogspot.com/2025/06/inherited-glutaric-aciduria-type-1-on.html

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:

He wrote over 300 passionate sonnets, many dedicated to Tommaso dei Cavalieri, a young nobleman. In one, he declared: "With your fair eyes a charming light I see, for which my own blind eyes would peer in vain"

Michelangelo's grandnephew later changed all the male pronouns to female ones to hide their true nature. It wasn't until gay critic John Addington Symonds published accurate translations in 1893 that the truth came to light.

When criticized for featuring too many naked men in his art, Michelangelo famously defended himself: "What spirit is so empty and blind, that it cannot recognize the fact that the foot is more noble than the shoe, and skin more beautiful than the garment with which it is clothed?"