Balkan Journal of Medical Genetics

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

RESULTS

Table 1 summarizes some of the clinical data and mtDNA testing results of the ASDs patients in the present study. Molecular genetic studies were performed by isolation of total DNA from blood by standard procedures, screening for the mtDNA mutations by PCR-SBT analysis and subsequent sequencing of the whole mitochondrial genome. Sixteen of the 21 children carried reported polymorphisms and/or silent variants and two patients carried mtDNA mutations of likely pathogenicity (Table 1). In one patient, a G>A transition in protein- coding regions (COI, subunit of cytochrome c oxidase) was detected: m.6852 G>A, p.( Gly317Ser) (Figure 1). A candidate mutation m.8033A>G that produces an amino acid change p.(Ile 150Val) in the mitochondrial gene (MT-CO2) coding for complex IV that has not been reported before, was observed in one boy with autism, moderate mental retardation and hypertrichosis (Figure 2). These mutations were present in homoplasmy in the patient’s DNA. Normal blood lactate levels were found in the two children carrying mtDNA mutations.

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