Published January 1, 2020
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A heritable profile of six miRNAs in autistic patients and mouse models
Creators
- 1. Erciyes Univ, Betul Ziya Eren Genome & Stem Cell Ctr, Kayseri, Turkey
- 2. Ankara Univ, Med Fac, Child & Adolescent Psychiat Dept, Ankara, Turkey
- 3. Erciyes Univ, Med Genet Dept, Med Fac, Kayseri, Turkey
- 4. Baskent Univ, Med Fac, Physiol Dept, Ankara, Turkey
- 5. Univ Cote Azur, INSERM, CNRS, Nice, France
- 6. Erciyes Univ, Histol & Embryol Dept, Vet Fac, Kayseri, Turkey
- 7. Bozok Univ, Med Fac, Histol & Embryol Dept, Yozgat, Turkey
Description
Autism spectrum disorder (ASD) is a group of developmental pathologies that impair social communication and cause repetitive behaviors. The suggested roles of noncoding RNAs in pathology led us to perform a comparative analysis of the microRNAs expressed in the serum of human ASD patients. The analysis of a cohort of 45 children with ASD revealed that six microRNAs (miR-19a-3p, miR-361-5p, miR-3613-3p, miR-150-5p, miR-126-3p, and miR-499a-5p) were expressed at low to very low levels compared to those in healthy controls. A similar but less pronounced decrease was registered in the clinically unaffected parents of the sick children and in their siblings but never in any genetically unrelated control. Results consistent with these observations were obtained in the blood, hypothalamus and sperm of two of the established mouse models of ASD: valproic acid-treated animals and Cc2d1a(+/-) heterozygotes. In both instances, the same characteristic miRNA profile was evidenced in the affected individuals and inherited together with disease symptoms in the progeny of crosses with healthy animals. The consistent association of these genetic regulatory changes with the disease provides a starting point for evaluating the changes in the activity of the target genes and, thus, the underlying mechanism(s). From the applied societal and medical perspectives, once properly confirmed in large cohorts, these observations provide tools for the very early identification of affected children and progenitors.
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