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Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis
1International Child Development Resource Center, Melbourne, FL 32934, USA. rossignolmd@gmail.com
Molecular Psychiatry
|January 26, 2011
Summary
Mitochondrial dysfunction is common in autism spectrum disorder (ASD), affecting 5% of children with ASD. This condition is linked to specific biomarkers and may be a distinct subgroup in children with ASD and mitochondrial disease.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Autism spectrum disorder (ASD) is a complex neurodevelopmental condition.
- Mitochondrial dysfunction has been increasingly implicated in various neurodevelopmental disorders.
- Understanding the role of mitochondria in ASD is crucial for potential therapeutic targets.
Purpose of the Study:
- To identify features of mitochondrial dysfunction in children with ASD.
- To compare mitochondrial dysfunction in children with ASD and concomitant mitochondrial disease (ASD/MD) with other populations.
- To explore the prevalence and characteristics of mitochondrial dysfunction in ASD.
Main Methods:
- Comprehensive literature search to collate evidence on mitochondrial dysfunction in ASD.
- Analysis of mitochondrial biomarkers (lactate, pyruvate, carnitine, ubiquinone) in ASD populations.
- Comparison of ASD/MD cases with general ASD and general MD populations.
Main Results:
- Mitochondrial disease (MD) prevalence in ASD is 5.0%, significantly higher than the general population.
- Abnormal mitochondrial biomarker values are prevalent in ASD, often correlating with ASD severity.
- ASD/MD cases exhibit distinct features, including developmental regression, seizures, and gastrointestinal abnormalities, similar to general MD populations.
Conclusions:
- Mitochondrial dysfunction is associated with ASD, presenting a spectrum of severity.
- ASD/MD represents a distinct subgroup of mitochondrial disease.
- Further research is needed to elucidate the precise role and mechanisms of mitochondrial dysfunction in ASD.
Related Concept Videos
Autism Spectrum Disorder
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Mitochondrial Membranes
A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...

