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

INTRODUCTION

Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders characterized by impaired reciprocal social interaction, lack of communication, isolated interests and repetitive or stereotyped behaviors [1]. It is now estimated that about one out of every 150 children is affected with ASDs [2]. Most cases are idiopathic, although there is increasing evidence that ASDs have an important genetic component with aetiological heterogeneity [3]. Some cases of autism have been associated with several different organic conditions including mitochondrial dysfunction [4- 6], however, very few individuals with mitochondrial DNA (mtDNA) mutations have been found [7-10]. Pons et al. [7] reported two ASDs patients with the 3243A>G mutation and postulated that ASDs, with or without additional neurological features, can be an early presentation of the 3243A>G mutation and can be a prominent clinical manifestation of mtDNA depletion. One study of 810 patients with ASDs identified two individuals (0.2%) with the same mutation (3243A>G) [8]. Graf et al. [9] described a family with different neurological disorders associated with the mtDNA 8363G>A mutation; the phenotype of one child in the family was consistent with ASDs. Several variants of probable or unclear pathogenicity (3397A>G, 4295A>G, 3394T>C, 10394C>T, 11809T>C and 11984T>C) were detected in 25 ASDs patients [10]. Another study of 129 individuals with Asperger syndrome and 138 mothers of individuals with Asperger syndrome searched for the 3243A>G mutation, but no such mutation was found [11]. According to the Álvarez-Iglesias et al. “Therefore there is a certain amount of evidence that seems to suggest a role of mtDNA variants in ASDs; however, this evidence is weak and/or has not been replicated yet in different independent cohorts of patients.” [12]. To further investigate the hypothesis of an aetiological link between ASDs and mitochondrial disorders, we screened 21 autistic children for mtDNA mutations.

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