Posts Tagged ‘genes’
I’m sure plenty of you are wondering what happened to this site’s activity. To summarize, my schedule was eaten up by a swarm of Minnesota state tournament coverage, but I’ve now returned from my hiatus to continue informing you of autism’s role in the news. I appreciate the visits you’ve made in my three months away from The Autistic Journalist, which passed 10,000 hits during my pause. To thank you, I’ll pull out an article I had saved to discuss with you.
Two months ago, MSNBC reported a study suggesting testosterone could be a culprit in the higher prevalence of autism in males. A similar story was picked up by a CBS TV affiliate in Green Bay, but that story has since been removed. The study found testosterone lowers the ability for cells to express a particular gene known as RORA. That gene, when activated, can protect neurons from the effects of stress and inflammation, and both are elevated in autistic people. Conversely, estrogen raises RORA levels, which may protect females against autism even if RORA levels were otherwise low. An alternate theory is genes in the X chromosome, suggesting females have a “backup copy” since they carry two X chromosomes while males have one X and one Y chromosome. Despite the theory’s plausibility, no X chromosome genes have been associated with autism.
This doesn’t mean your boys will develop autism upon reaching puberty, when testosterone increases can be noticed. The story gives us a potential clue to autism’s cause, but genes and testosterone levels are simply a game of chance when cells are developing. The explanations provided in the story make sense, but more research will be needed to make an accurate conclusion to this hypothesis.
While the story doesn’t say much, people have been wondering why boys are more likely to receive an autism diagnosis than girls, and any step that brings an answer closer to a question may help ease the mind of concerned individuals.
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.
At least according to a new study that was published in the June 10 issue of Nature. U.S. News & World Report also reported the findings, which could serve as the next step in finding an indisputable cause for autism.
The study pinpoints genetic abnormalities in people with autism spectrum disorder versus people who aren’t autistic. DNA segments are either missing in autistic people or carry a segment repeated several times, known as copy number variations (CNV). On average, autistic people had 19% more CNVs that unaffected individuals in the study, and most CNVs in autistic people were inherited from their parents. Scientists involved in the study say the findings confirm a hypothesis that autism has hundreds of genetic risk factors. However, they say knowledge of genetic abnormalities will also improve treatments for the disability.
Obviously, one study can’t and won’t answer every question out there. However, applying this new information may ultimately have an effect on contemporary topics involving the autism community. A genetic risk for autism would counter the idea that vaccines are the culprit since DNA is constructed long before a child is born. Suggesting genetic factors could also lead to genetic testing for the condition. Controversial as they may be, considering the concerns people have about insurers or employers getting a hold of that information, I doubt autism would ever go that far. If further research supports the findings of this study that autism may be passed genetically to kids, even if parents are nowhere near the spectrum (and virtually none are), it may affect decisions about raising kids. I’ve lost count as to how many times I hear parents metaphorically equate an autism diagnosis with a cancer diagnosis when they find out for the first time. While finding a specific percentage of parents who succumb to fears is virtually impossible, in theory, there’s a possibility if they can get an answer in advance.
The scientific facets of autism will never bore you if you’re looking for a continuously evolving topic. If the urine test I blogged about yesterday does indeed become widely available, coupling the biological test with new information on genetic sequencing would increase accuracy of diagnosing autism significantly. Even though most articles I’ve discussed on this site since the year began focus more on the human interest perspective, that doesn’t mean the science is ignored. Popular press just won’t saturate their coverage with scientific stories since, especially for electronic stories, they’re harder to visualize and communicate to the audience. Stories about overcoming symptoms, accommodating the autism community, and new ways to help them adapt to the rest of the world are far more interesting to the non-scientific audience. However, it’s science that will truly progress our knowledge and approach to the autism community. Perhaps it’s time to bring back Bill Nye 😛