Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis

Logo for mitochondrial DNA

Introduction 

Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by impaired social interaction and communication, as well as isolated interests and repetitive or stereotyped behaviors [1]. ASDs pose a significant burden to affected individuals, their families and society. This burden comes both from the debilitating and lifelong nature of ASDs and from their prevalence. It is now estimated that about one out of every 166 children is affected with ASD [2]. Most cases are idiopathic, although there are many uncommon or rare genetic and metabolic causes of autism that are increasingly recognized [3]–[5].

In 1998, Lombard postulated mitochondrial dysfunction as a cause of autism [6]. Prior and subsequent case reports provided biochemical data indicating perturbation of mitochondrial energy metabolism in some individuals with ASD [7]–[12], including mtDNA mutations in several [10], [13], [14]. Recently, Oliveira and colleagues published a population-based survey of school-age children with ASD. They found that 7% of those who were fully tested met criteria for definite mitochondrial respiratory chain disorders and were also clinically indistinguishable from other children with ASD [15]. This work is notable because it suggests that mitochondrial disorders of energy production may be present in a substantial percentage of children with ASD. To better describe the clinical spectrum of children with ‘mitochondrial autism’, we undertook a chart review of the biochemical, genetic, and histopathological findings in 25 patients with ASD who had unequivocal evidence of a disorder of oxidative phosphorylation.

via PLoS ONE: Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis.

4 thoughts on “Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis

  1. Can I simply just say what a relief to find somebody who truly knows what they are talking about online. You definitely understand how to bring a problem to light and make it important. More and more people have to check this out and understand this side of your story. I was surprised that you are not more popular given that you definitely possess the gift

  2. Pingback: Autism Study Reveals No Genetic Associations | Through The Puzzle

  3. Pingback: Mitchondrial diseas | Evdioner

  4. Pingback: Press Release – The Damaging Impact Of Seizures On Individuals With Autism « adelesymonds

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s