It is great news if some forms of dementia (and rare genetic conditions as you mentioned) could be treated as the researcher is hypothesizing. I certainly hope so! It would be party time! 🎉🥳 🎈
I wasn't able to access the transcript so I clicked on the video. But then she started to get all technical and my mind just sort of drifted away....☁️
For sure the new genetic research is fascinating, even identifying genetic markers is revolutionary.
Since no-one has rushed to read this, I’ll give some details. It’s the most interesting thing I have ever read about finding a solution for AZ!.
The medical team was investigating a family where kidney failures were common and found a DNA variant, one extra letter in a gene called MUC-1. “How can a single extra letter in the DNA lead to so much trouble?”... “We found that the mutation in the MUC-1 gene is generating a mangled, misshapen mutant protein that does not go to the surface of cells, but instead accumulates inside …. cells because of another molecule, a so-called cargo receptor”….
“This mysterious kidney disease was not so strange or mysterious after all. In fact, we learned that it belongs to a group of disorders collectively known as toxic proteinopathies. You may have heard of some of them, all terrible, incurable diseases like ALS and Alzheimer's disease”.... “We are finding that the same may be true for different misshapen proteins accumulating in cells in the brain, causing some forms of Alzheimer's disease”. Cargo receptors may be able to “grab and accumulate misshapen proteins in different cells and organs in the body”. And clearing them may solve ‘rare’ genetic problems that in total affect 10% of the population (including me and my daughters with scoliosis and marfan body type).
This “newly uncovered biology is operative in a form of blindness called retinitis pigmentosa, which is caused by a different misshapen protein accumulating in cells in the eye. In preliminary studies shown here at TED for the first time, here is a mouse I cleared of mutant protein”.
It is great news if some forms of dementia (and rare genetic conditions as you mentioned) could be treated as the researcher is hypothesizing. I certainly hope so! It would be party time! 🎉🥳 🎈
For sure the new genetic research is fascinating, even identifying genetic markers is revolutionary.
The medical team was investigating a family where kidney failures were common and found a DNA variant, one extra letter in a gene called MUC-1. “How can a single extra letter in the DNA lead to so much trouble?”... “We found that the mutation in the MUC-1 gene is generating a mangled, misshapen mutant protein that does not go to the surface of cells, but instead accumulates inside …. cells because of another molecule, a so-called cargo receptor”….
“This mysterious kidney disease was not so strange or mysterious after all. In fact, we learned that it belongs to a group of disorders collectively known as toxic proteinopathies. You may have heard of some of them, all terrible, incurable diseases like ALS and Alzheimer's disease”.... “We are finding that the same may be true for different misshapen proteins accumulating in cells in the brain, causing some forms of Alzheimer's disease”. Cargo receptors may be able to “grab and accumulate misshapen proteins in different cells and organs in the body”. And clearing them may solve ‘rare’ genetic problems that in total affect 10% of the population (including me and my daughters with scoliosis and marfan body type).
This “newly uncovered biology is operative in a form of blindness called retinitis pigmentosa, which is caused by a different misshapen protein accumulating in cells in the eye. In preliminary studies shown here at TED for the first time, here is a mouse I cleared of mutant protein”.
A genuine WOW which should upset nobody!