By Dr. Suzanne Goh
One of the most important developments in autism research in recent years has been a focus on how the body’s biochemistry is altered in autism. Many research studies have now shown that in those with autism, the mitochondria (which are the key part of the cell that generate energy) are not functioning well.
Last month I was part of a team of researchers from Columbia University Medical Center to publish a research paper that showed signs of mitochondrial dysfunction directly in brain tissue in children and adults autism. The article was published in the journal JAMA Psychiatry (Goh et al., 2014) and was the first study to detect elevated levels of lactate (a marker of mitochondrial dysfunction) using magnetic resonance imaging (MRI) to look directly in the brain in those with autism.
Many studies have already shown that mitochondrial dysfunction is present in the blood and other regions of the body in individuals with autism – at rates as high as 80%. But no research study had detected this in the brain, so until now it has been unclear whether this was a contributing factor to the symptoms of autism.
Some of the key findings of our study are:
(1) Both children and adults with autism had brain mitochondrial dysfunction. Overall, this was seen in about 1 in 5 adults and in about 1 in 12 children, but we think that this is likely to be an underestimate because MRI is an insensitive technique for detecting brain lactate (but it is the best technique we have available at this time).
(2) Mitochondrial dysfunction was present in those with above-average intelligence as well as those with below-average intelligence. It was present in those with mild symptoms as well as those with severe symptoms of autism.
(3) Mitochondrial dysfunction was found in areas of the brain that are important for higher-level cognitive functions. In particular, the cingulate gyrus was commonly found to have elevated brain lactate, and this is a region of the brain that is important for higher order control of thought, emotion, and behavior.
These findings are important for many reasons. First, they help us understand the mechanisms which lead to the symptoms of autism, and that means we may be able to develop treatments that will help improve the symptoms (Parikh, et al, 2009). Already, many leading clinical centers are using a variety of supplements and vitamins in order to improve the function of mitochondria in individuals with autism as well as a range of other disorders, such as multiple sclerosis, Alzheimer’s disease, Parkinson’s disease, and others (Kelley, 2008).
These findings also suggest that other measures may be helpful to many of those with autism – measures that support healthy mitochondrial function, such as regular moderate exercise, avoidance of long periods of fasting or dehydration, and avoidance of medications which have toxicity to mitochondria. There are also other triggers that can impair mitochondrial function, such as environmental toxins, and removing such exposures may also be an important strategy in a comprehensive approach to autism treatment.
Goh, S., et al. Mitochondrial Dysfunction as a Neurobiological Subtype of Autism Spectrum Disorder: evidence from brain imaging. JAMA Psychiatry. 2014; doi:10.1001/jamapsychiatry.2014.179.
Parikh, S., et al. A Modern Approach to the Treatment of Mitochondrial Disease. Current Treatment Options in Neurology. 2009;11:414-430.
Kelley, R. Evaluation and Treatment of Patients with Autism and Mitochondrial Disease – Practice guideline. Johns Hopkins University, Division of Metabolism.
To read more about Dr. Suzanne Goh – please see her website http://www.gohmd.org/meet-dr-goh.html