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.
Detskiĭ autizm – rasprostranennoe rasstroĭstvo psikhicheskogo razvitiia, v vozniknovenii kotorogo sushchestvennuiu rol' igraet kak nasledstvennost', tak i faktory sredy, v tom chisle sostoianie organizma materi vo vremia beremennosti (“materinskiĭ éffekt”). Predpolagaetsia, chto kliuchevuiu rol' v patogeneze detskogo autizma igraet okislitel'nyĭ stress, okazyvaiushchiĭ genotoksichnyĭ éffekt, kotoryĭ vyrazhaetsia v vozniknovenii odno- i dvunitevykh razryvov iadernoĭ DNK. My otsenivali stepen' povrezhdennosti DNK u patsientov s detskim autizmom i ikh matereĭ metodom DNK-komet po parametram momenta khvosta DNK-komety i doli DNK v khvoste. Oba parametra pokazali vysokuiu korreliatsiiu (r=0,90). Srednee i mediannoe znacheniia oboikh parametrov v vyborke deteĭ, stradaiushchikh autizmom, byli sushchestvenno vyshe, chem v kontrol'noĭ vyborke normal'nykh deteĭ togo zhe vozrasta. Interesno, chto u zdorovykh matereĭ bol'nykh deteĭ znacheniia étikh parametrov byli takzhe povysheny, ne otlichaias' ot takovykh v vyborke deteĭ s autizmom. Kontrol'naia vyborka zdorovykh zhenshchin reproduktivnogo vozrasta, ne imevshikh deteĭ s autizmom, po srednemu znacheniiu momenta khvosta DNK-komety otlichalas' ot gruppy matereĭ bol'nykh deteĭ, no znachimo ne otlichalas' ot gruppy zdorovykh deteĭ. Mozhno predpolozhit', chto v organizme psikhicheski zdorovykh matereĭ deteĭ s autizmom imeiutsia genotoksichnye faktory, kotorye obuslavlivaiut razvitie zabolevaniia u ploda cherez sredovoĭ “materinskiĭ éffekt” vo vremia vynashivaniia.
Keywords: DNA breaks; autism; comet assay; maternal effect.