The maternal effect in infantile autism: elevated DNA damage degree in patients and their mothers

Porokhovnik L.N.1 , Kostyuk S.V.1, Ershova E.S.1, Stukalov S.M.1, Veiko N.N.1, Korovina N.Yu.2, Gorbachevskaya N.L.3, Sorokin A.B.3, Lyapunova N.A.1

1. Research Centre of Medical Genetics, Moscow, Russia
2. Research and Practice Centre of Pediatric Neuropsychiatry, Moscow, Russia
3. Research Centre for Mental Health, Moscow, Russia
Section: Clinical and Diagnostic Research
DOI: 10.18097/PBMC20166204466      PubMed Id: 27563002
Year: 2016  Volume: 62  Issue: 4  Pages: 466-470
Infantile autism is a common disorder of mental development, which is characterized by impairments in the communicative, cognitive and speech spheres and obsessional stereotyped behaviour. Although in most cases, pathogenic factors remain unclear, infantile autism has a significant hereditary component, however, its etiology is also under the influence of environmental factors, including the condition of the mother's body during pregnancy (“maternal effect”). Oxidative stress is assumed to play a key role in the pathogenesis of infantile autism. It is known that oxidative stress has a prominent genotoxic effect, which is realized through inducing single and double strand breaks of the nuclear DNA. We evaluated the degree of DNA damage in patients with infantile autism and their mothers using DNA comet assay. The comet tail moment and DNA per cent ratio in the tail were assessed for each individual. The two parameters appeared to be strongly correlated (r=0.90). Mean and median values of both parameters were considerably higher in the sample of autistic children, than in age-matching healthy controls. Interestingly, these parameters were also elevated in healthy mothers of autistic children, with no difference from the values in the group of autistic children. The control group of healthy women of reproductive age, who had no children with autism, differed by the DNA comet tail moment from the group of mothers of autistic children, but did not differ significantly from the control group of healthy children. The results suggest that there are genotoxic factors in mentally healthy mothers of autistic children, which can determine the pathological process in the foeti via environmental “maternal effect” during gestation.
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Keywords: autism, comet assay, maternal effect, DNA breaks

Porokhovnik, L. N., Kostyuk, S. V., Ershova, E. S., Stukalov, S. M., Veiko, N. N., Korovina, N. Yu., Gorbachevskaya, N. L., Sorokin, A. B., Lyapunova, N. A. (2016). The maternal effect in infantile autism: elevated DNA damage degree in patients and their mothers. Biomeditsinskaya Khimiya, 62(4), 466-470.
This paper is also available as the English translation: 10.1134/S1990750816040041
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