
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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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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