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

MATERIALS AND METHODS

Subjects. The patients included in this study were 21 autistic children (18 males and 3 females) ranged in age from 2 to 11 years. The diagnosis of ASDs was made by child neuropsychiatrists based on the criteria established in the American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) [1]. All patients are of Bulgarian ethnicity. The children were referred to our clinic for genetic and/or metabolic evaluation of autism but not specifically for evaluation for mitochondrial disease. All patients had an evaluation by neurologists, psychologists and clinical geneticists. Laboratory tests including standard karyotyping, fragile-X molecular testing. Molecular karyotyping by microarray comparative genomic hybridization was performed. Children with genetic anomalies potentially causative of ASDs were excluded from the study. The research protocol was approved by The Ethics Committee for Research Investigations to the Medical University, Sofia, Bulgaria. Informed consent was obtained from the guardians of all patients. Methods. Genomic high molecular weight DNA samples were extracted from peripheral blood lymphocytes, using a GENO-M6 automated system (Geno Vision, Geno M™-6; Olerup GmbH, Vienna, Austria). Polymerase chain reaction (PCR)-sequencing based technique(SBT) was used for detection of single nucleotide changes along the mtDNA. The mitochondrial genome was amplified regionally with an approximate fragments length of 1500 bp. Direct cycle sequencing with fluorescently labeled and terminating nucleotides was performed (BigDye™ Terminator Cycle sequencing Kit; Applied Biosystems,Foster City, CA, USA). Each DNA sequence variant was evaluated for pathogenicity by search in the MITOMAP and mtDB-Human Mitochondrial Genome databases [13,14]. The method allowed target identification of the most common pathogenic mutation points via the mitochondrial genome of the patients. Moreover it was possible to detect additional variants through the sequence as polymorphisms, silent and non synonymous mutations.

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