Children with autism spectrum disorder had more than twice as many potential harmful mutation compared with unaffected siblings or family members.
- Harmful mutations in mitochondrial DNA seen in individuals with autism spectrum DNA.
- These mutations could be spontaneous or inherited from from mother.
- Harmful mutations is also associated with increased risk of neurological and developmental problems among children with ASD. Children diagnosed with autism spectrum disorder (ASD) have greater numbers of harmful mutations in their mitochondrial DNA than family members. These findings were reported by Zhenglong Gu of Cornell University in Ithaca, New York, and colleagues, in a study published October 28th, 2016 in PLOS Genetics.
Autism Causes, Symptoms, Diagnosis, Treatment, Prognosis
Autism is a neurodevelopmental disorder typically characterized by impaired social and communication skills combined with repetitive movements.
Autism is a neurodevelopmental disorder typically characterized by impaired social and communication skills combined with repetitive movements.
‘Evaluating mutations in the mitochondrial DNA of high-risk families could help improve the diagnosis. This could lead to development of new kinds of treatments, and preventative strategies that would target mitochondria.’
Studies point to malfunctions in mitochondria - the powerhouses of the cell - as a cause of autism spectrum disorder, but the biological basis for this relationship is unclear. To see if a genetic link exists between mitochondrial malfunction and ASD, the scientists analyzed mitochondrial DNA sequences from 903 children with ASD, along with their unaffected siblings and mothers.
They discovered a unique pattern of heteroplasmic mutations, where both mutant and normal mitochondrial DNA sequences exist in a single cell.
Diabetes Drug Metformin Decreases Weight Gain in Children With Autism
Young people with autism are given antipsychotic medications that are likely to increase weight. A new study claims that metformin could counteract the side effect.
Young people with autism are given antipsychotic medications that are likely to increase weight. A new study claims that metformin could counteract the side effect.
The researchers went on to show that these mutations can be inherited from the mother, or the result of spontaneous mutation during development.
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Quiz on Autism
Autism spectrum disorder is a complex genetic disorder that impairs social, behavioral, and communication functions in humans. Autistic people may act, communicate, interact, and learn differently than most other people. ASD usually begins in childhood and can last for the rest of a person's life, though symptoms may improve over time
Autism spectrum disorder is a complex genetic disorder that impairs social, behavioral, and communication functions in humans. Autistic people may act, communicate, interact, and learn differently than most other people. ASD usually begins in childhood and can last for the rest of a person's life, though symptoms may improve over time
Carrying harmful mutations in mitochondrial DNA is also associated with increased risk of neurological and developmental problems among children with ASD.
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Impaired Recycling Of Mitochondria Could Be Responsible For Autism
Defects in autophagy of mitochondria have been implicated in a number of neurological disorders such as autism, Parkinson's disease and Alzheimer's disease.
Defects in autophagy of mitochondria have been implicated in a number of neurological disorders such as autism, Parkinson's disease and Alzheimer's disease.
Evaluating mutations in the mitochondrial DNA of high-risk families could help improve the diagnosis and treatment of these diseases.
Zhenglong Gu says "The result of our study synergizes with recent work on ASD, calling attention to children diagnosed with ASD who have one or more developmental abnormalities or related co-morbid clinical conditions for further testing on mitochondrial DNA and mitochondrial function.”
Since many neurodevelopmental disorders and related childhood disorders show abnormalities that converge upon mitochondrial dysfunction, and may have mtDNA defects as a common harbinger, future research is needed to elucidate the mitochondrial mechanisms underpinning to these diseases.
Ultimately, understanding the energetic aspects of neurodevelopmental disorders may lead to entirely new kinds of treatments, and preventative strategies that would target mitochondria.
Source-Medindia
