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
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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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