Largest study to date provides new hope for Autism

Brandon Lemon

Biology 1610

Professor G. Stofer

03/16/2017 

               In an article posted on Scientific American, a new study has been conducted studying the genetic sequences related to autism.  In a study involving 5,000 individuals with autism, 18 new candidate genes have been discovered related to this disorder.

                The study conducted does not have the intentions of curing autism, but rather coming up with more effective methods of treatment and medicines for those suffering from the disease.  A quote from research associate Ryan Yuen says, “Eighty percent of them (autism related genes) involve common biological pathways that have potential targets for future medicines.”  This new study involves the largest study of its kind to date, with the end goal reaching 10,000 individuals studied which is still in progress.

                The researchers in the study analyzed whole-genome sequences from 5,193 individuals with about half of which having autism.  Nearly 3100 individuals come from simplex families meaning that only one child has autism but not anyone else in that family.  The other nearly 2,100 come from multiplex families consisting of multiple individuals in the same family being diagnosed with this disorder.  While although autism appears to be random, it is still perhaps more common than we think.  With 1 in 68 children now affected by the disease, it appears to be more commonly diagnosed, especially if someone in your family already has autism.  The study states, “People with autism carry an average of 74 spontaneous or de novo, mutations”.  This means, they have an average of about 13 large DNA deletions or duplications, also known as copy number variations.  As we have studied from class, we know that not all mutations are harmful, but it is important to identify and point out the ones that are.

This study and previous studies, have helped researchers identify harmful mutations located in the DNA of autistic people.  Some of those sequences are named MED 13, MED13L, PHF3, and PHF2.  These DNA mutations often regulate the structure of chromatin – being the coiled complex of DNA and protein.  Scientists involved in this study are very optimistic that with so many individuals participating in the study, that it will be much easier to identify commonalities between genetic sequences.

This article is most interesting to me because I, like many of you, have known someone with autism.  The person that comes to mind most is one of my friends named Mitchell.  Mitchell has asperger’s syndrome which is a high functioning form of autism.  As I got to know Mitchell more, I realized how simple tasks to me were so difficult for him.  He was very intelligent but had a difficult time expressing himself through communication with others.  He is socially awkward, and had difficulties with physical coordination.  Some of the more apparent difficulties I noticed is that when decisions were left up to him, he would often over analyze or over think simple things like which direction to go.  A simple decision for most would take him twice or three times as long to come up with.  All these symptoms I have mentioned fall in line with someone who has autism.  I hope that for people with autism and their families, that studies like this can give new hope for improved  treatment methods.

Source:

https://www.scientificamerican.com/article/discovery-of-18-new-autism-linked-genes-may-point-to-new-treatments/