autism and myelination issues in the news again
2020-Mar-06, Friday 11:03 am![[personal profile]](https://www.dreamwidth.org/img/silk/identity/user.png){kind=small}
mellowtiggerI wrote about this study back when it was first announced, but it's in the news again now because it's being published instead of merely announced at a conference.
Researchers were studying Pitt-Hopkins Syndrome when they unexpectedly found a genetic link between autism and myelination problems. It might even explain 1) why autism encompasses such a wide range of features, 2) why some of us eventually grow quite large skulls, and 3) why autism traits may first be noticed around age 3.
Here is another article about this same study.
It sure matches my own medical history. Large skull for my body size, yes. Neuron problems due to demyelination, yes. These are objective measures not subject to "fuzzy" interpretation through psychological evaluation. This is very interesting stuff to me. I want an objective test for autism and clear delineation between sub-types. It sounds like progress is being made.
Researchers were studying Pitt-Hopkins Syndrome when they unexpectedly found a genetic link between autism and myelination problems. It might even explain 1) why autism encompasses such a wide range of features, 2) why some of us eventually grow quite large skulls, and 3) why autism traits may first be noticed around age 3.
More experiments confirmed that "there was a clear deficit," in the cells that control myelination, which are called oligodendrocytes, he says. This was true not only in mice with the Pitt-Hopkins syndrome, but in other mouse models of autism, too... Brain myelination "really does not start in earnest until the first year or two of life," Weinberger says. "And this is around the time that autism is first apparent."
- https://www.npr.org/sections/health-shots/2020/02/03/802215344/researchers-link-autism-to-a-system-that-insulates-brain-wiring
- https://www.npr.org/sections/health-shots/2020/02/03/802215344/researchers-link-autism-to-a-system-that-insulates-brain-wiring
Here is another article about this same study.
Genes involved in the formation of myelin, a fatty substance that sheathes neurons, are altered in brain tissue from autistic people and in several mouse models... “In general, across the whole spectrum, there’s a defect in myelination,” ... All three mouse models show alterations in the expression of a shared set of 34 genes, most of which are involved in myelination. The same genes show atypical expression in two independent gene-expression datasets from autistic people, the researchers found.
- https://www.spectrumnews.org/news/loss-of-insulation-on-neurons-may-contribute-to-autism/
- https://www.spectrumnews.org/news/loss-of-insulation-on-neurons-may-contribute-to-autism/
It sure matches my own medical history. Large skull for my body size, yes. Neuron problems due to demyelination, yes. These are objective measures not subject to "fuzzy" interpretation through psychological evaluation. This is very interesting stuff to me. I want an objective test for autism and clear delineation between sub-types. It sounds like progress is being made.