Many pieces of the puzzle of autism are up for debate. Does Chelation work? What about mercury, lead and arsenic and their role? Does gluten or casein play a part, and will hyperbaric oxygen treatments or stem cell injections help? In general, what is the cause of autism anyway? A number of factors...but which factors? A study concluded earlier this year by Dr. Valerie Hu, a professor of Biochemistry and Molecular Biology at the George Washington University in Washington D.C. may have found (at least part of) the answer.
The technical piece: In this study, “Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines” Dr. Hu and collaborators found that by comparing siblings and twins where one was diagnosed with autism and the other not, the brain-specific and brain-related microRNAs (definition here) were expressed differently. These differently expressing microRNAs could possibly regulate genes that control many processes that are disrupted in autism; the regulation of neurological functions along with genes associated with gastrointestinal diseases and steroid hormone metabolism.
The piece for the rest of us: What differs about Dr. Hu’s study is that rather than investigating genetic mutations, as research studies of the past have, Dr. Hu sought to understanding autism through epigenetics (studying inheritable marks on DNA that determine levels of gene activity). Why? Because epigenome, is the middle-man between DNA and the environment...between genes and, let’s say, mercury. What happens when the two mix and how it can be reversed are the implications of this study.
Dr. Hu, through the experiences with her son diagnosed with PDD-NOS (Pervasive Developmental Disorder Not Otherwise Specified- an Autism Spectrum Disorder) at age 2, began with the belief that treatment of autism is such a difficult trial and error process because it’s looked at as a disorder of a large group of people rather than subgroups with differences among them. Dr. Hu has been able to identify specific types (or flavors) of autism during this study. By slicing through the spectrum based on the differences in behavioral profiles and other similarities, she has identified four (4) autism subtypes.
One group is characterized by severe language deficits; this group also appears to be more effected by epilepsy and sleep disorders. A second group labeled as intermediate; a third group of milder autistic symptoms or features, and finally, the fourth group of savants (extraordinary memory, computational or artistic skills and abilities).
In the end, the results of this study (the entirety of which can be found here) along with sub-studies also conducted by Dr. Hu and her colleagues, there becomes a possibility that blood tests could be developed to determine the dysfunctions occurring in an autistic brain. With molecular identification, an infant who may develop autism could essentially be given a blood test at birth and begin molecular-specific treatments for his identified type of autism.
Dr. Hu, says”…’With epigenetics it’s not like you have to change the sequence of the DNA to correct the problem,’ she says. ‘You just have to alter the way the gene is used. So that's a big difference.’ (Quote: George Washington Today/April 2010 “Searching for Autism’s Treatable Roots”, Danny Freedman.
“As a parent, my goal in autism research would be to discover something that is going to be helpful for individuals with autism, not just my son, but also my son, such that, we’ll have a better handle at treating whatever the differences are in order to make life better for them.” - Dr. Valerie Hu
Wouldn’t that be a wondrous and magical day!