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Mitochondrial Disease and Autism

Dec 02 | Mitochondrial Disease and Autism

In 2007 the US Vaccine Court settled the case of a Georgia girl who developed autism symptoms after receiving nine vaccines in one day. Their report concluded that the “vaccinations she received aggravated an underlying mitochondrial disorder, which predisposed her to deficits in cellular energy metabolism, and manifested as a regressive encephalopathy with features of autism spectrum disorder.” [BALCELLS] Additionally, Giulivi et. al. concluded in an article published in JAMA that "children with autism were more likely to have mitochondrial dysfunction, mtDNA overreplication, and mtDNA deletions than typically developing children." Could reseachers be homing in on an underlying cause of autism?

Follow up:

In the case referenced above the underlying mitochondrial disease was aggravated by the immunizations but this type of situation occurs only 20 times out of 100,000 cases while autism occurs in roughly 1 in 100 children so clearly something more than just a connection with mitochondrial disease is going on. And, while the results of the Giulivi study are promising, they are based on an extremely small sample study of just 10 autistic and 10 non-autistic children. From this sample, "one autistic child met the criteria for mitochondrial disease, and most had some biochemical sign that their mitochondria weren’t running at full speed. They also had some extra mitochondrial DNA, suggesting that the mitochondria were trying to make up for their lost productivity. That could be important because the brain is one of the biggest energy hogs in the body." [TIPS]While no consistent pattern has been found between autistic children and mitochondrial disease any clue that could direct future research towards an ultimate cause and cure is good news.

What are mitochondria?

MitochondrionMitochondria are organelles found in the cytoplasm of cells which produce 90% of the energy required by our bodies to sustain life and promote growth. When mitochondria fail, cell injury and cell death can follow. Mitochondrial disease primarily affects children and occurs when this failure process occurs over and over causing entire systems to shut down. There are hundreds of different mitochondrial diseases each producing a different spectrum of abnormalities. It is thought that mitochondria originated as separate, single-celled organisms which became so symbiotic with their hosts as to be indispensible. Mitochondrial DNA is genetically distinct from that in the cell nucleus and is inherited by children from their mothers.

Sources: 

Balcells, Christy RN MSN. mitoAction: Autism and Mitochondrial Disease. 2008

Giulivi, Cecelia PHd et. al. Journal of the American Medical Association: Mitochondrial Dysfunction in Autism. 2010.

Healthy Tips: Cells' 'power plants' damaged in some autistic kids.

United Mithochondrial Disease Foundation: What is mitochondrial disease?

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Cherrie Kilby | Manager

Meet Cherrie Kilby | Manager

Cherrie Leggett Kilby graduated from Southwestern University with a BS in Education and has taught in elementary and middle school for over twenty years in the U.S., Taiwan, and Japan. In addition she has taught English as a Second Language in China. Cherrie pursued a Master's degree in Education with reading as her area of specialty. She continues to teach special needs students at the elementary level and also teaches reading at the local community college. Cherrie was a tutor for Creative Tutors when it was first founded and loved working with the families she met. She wanted to continue to make a difference and started working as an area manager in 2005.   

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