MITOCHONDRIAL DNA MUTATIONS IN TWO BULGARIAN CHILDREN WITH AUTISTIC SPECTRUM DISORDERS
Avdjieva-Tzavella D1,*, Mihailova S2, Lukanov C2, Naumova E2, Simeonov E3, Tincheva R1, Toncheva D4
*Corresponding Author: Dr. Daniela Avdjieva-Tzavella, Department of Clinical Genetics, University Pediatric Hospital, 11 Ivan Geshov str., Sofia 1606, Bulgaria; Tel.: +35928154341; E-mail: davdjieva@ yahoo.com
page: 47

CONCLUSIONS

Despite of the mentioned limitations, our study suggests that mtDNA mutations may be an additional patho-genetic factor for a subset of individuals with autism. It is important for ASDs children with mitochondrial disorders to be identified early in life and to start a proper treatment with antioxidants and mitochondrial cofactors. Some ASDs patients who have a mitochondrial dysfunction can be phenotypically indistinguishable from children with idiopathic autism. In order to reach an early diagnosis, all children with ASDs should be screened for mitochondrial disorders. Further studies are needed to prove the clinical significance of the present findings and to understand how mitochondrial defects may contribute to autism.



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