Posts Tagged ‘misfolding’
San Diego (and myself) was an autism spotlight for the last week, with the University of California-San Diego publishing two studies regarding the disability. Their most recent was featured in the Journal of Biological Chemistry September issue, and found that misfolding of a certain protein, caused by gene mutations, results in deficiencies that can lead to abnormal communications between neurons. Genetic misfoldings prevent normal formation of neuronic synapses and has been noted in autistic people. Genetic mutations in autistic people were discovered just seven years ago, but could increasing understanding behind what causes autism and what influences the disability most, a good question with talk of environmental vs. genetic factors behind autism spectrum disorder. Discovering these mutations can also offer new targets for therapies.
The topic itself is very complex and difficult to apply in current situations with the general public. Further complicating these stories is a lack of knowledge of genetics within part of the autism community. The only recent story I can recall that was published by a mainstream news organization was ABC, when they reported a story suggesting that genes of an autistic person are dormant, compared to missing genes in people with other disabilities. The article’s link originated from UCSD’s own health department website, and I can’t see much syndication beyond their school newspaper. However, that’s no reason to discredit what colleges are doing to further the quest for knowledge. Whether it’s medical, genetic, or another form of science, college employees and researches often advance projects that reveal answers the rest of us may not have time to find.
Scientific studies may not be visually compelling or easy to comprehend at first, but because they reveal clues to understanding a rapidly prevalent mental disability, they will often serve a behind-the-scenes role in stories that traditional news organizations decide to pursue, including UCSD’s own study of autistic toddlers preferring to gaze at geometric shapes instead of people.