Abstract
Autistic Spectrum Disorder (ASD) is characterized by the impairment of socio-communicative skills and the presence of restricted and stereotyped behavior patterns. Recent researches have revealed the influence of mitochondrial physiology on the development of ASD. Several research groups have identified defects in respiratory complexes, coenzyme-Q10 deficiency, increased oxidative damage, decreased of superoxide dismutase (SOD2). A study on the influence of mitochondrial physiology on the development of ASD can provide new alternatives and challenges. That is why we set ourselves the general objective to initiate studies of mitochondrial physiology in Chilean children with ASD. A sample of oral mucosa was collected in a group of 12 children diagnosed with ASD and 12 children without ASD. In children with ASD, we found a significant increase in mitochondrial DNA levels. Likewise, in these children, an increase in the protein oxidation was observed. Finally, a downward trend in the expression of the HIGD2A and SOD2 genes was observed, while DRP1, FIS1, MFN1, MFN2, and OPA1 gene expression show an upward trend. The increment of mitochondrial DNA, high oxidative stress, and high expression of the MFN2 gene could help as a scanner of the mitochondrial function in children with ASD.
Highlights
The Autism Spectrum Disorder (ASD) is an alteration of the neurodevelopment with an impact throughout life that present impediments in the social interaction, communication, imagination, and repetitive behaviors, that could affect 1 to 2% of children [1,2,3,4,5,6,7,8,9]
With the purpose of understanding the results of the gene expression reported above, we review the genetic associations of these genes with the computational tool from the Lewis–Sigler Institute of Integrative Genomics at Princeton University (USA) that can predict the association of each of the genes of the human genome with the genetic basis of Autistic Spectrum Disorder (ASD)
When we review the networks of genetic associations of the MFN2 gene (Table 2), the integration with genes that are more likely to be associated with the development of autism is evident
Summary
The Autism Spectrum Disorder (ASD) is an alteration of the neurodevelopment with an impact throughout life that present impediments in the social interaction, communication, imagination, and repetitive behaviors, that could affect 1 to 2% of children [1,2,3,4,5,6,7,8,9]. It is essential to advance in the study of molecular mechanism of ASD. Many investigations have focused on the study of mitochondrial dysfunction in children with ASD [13,14,15,16,17]. The first studies that associated the alteration of bioenergetics metabolism with the ASD reported high levels of lactic acid, pyruvate, and serotonin [13]. Defects were identified in every I, II, III, IV, and V respiratory complex, deficiency of coenzyme Q10 (CoQ10), defects in mitochondrial genes and nuclear genes [9,14,15,16]
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