Expression of sperm miRNA from fathers of Autism Spectrum Disorder (ASD) patients

Abstract

Autism Spectrum Disorder (ASD) refers to a group of neurodevelopmental disorders with a broad spectrum of clinical phenotypes, characterized by deficits in social interaction, repetitive/stereotyped behaviors, problems in perception, interpretation, and elaboration of verbal and nonverbal communication and little or no eye contact. Such symptoms may be noticed in the first months of life, varying in intensity. So far, ASD diagnosis has been based on genetic analysis; however, genetics by itself cannot explain all the cases within the spectrum, making environmental influences and epigenetic analysis important aspects of ASD diagnosis. Epigenetics involves chemical and heritable modifications of gene expression without altering the DNA nucleotide base sequence. Epigenetic mechanisms are DNA methylation, histone modification and regulation of gene expression by sncRNAs. Alterations of miRNA expression have been reported in ASD patients. Epigenetic marks can be transmitted to other generations through the sperm, which despite the scarce cytoplasm, transfer large amounts of RNAs to the embryo. Thus, the aim of this research is to investigate the expression of miRNAs in sperm from parents of ASD patients and relate the data obtained with those obtained from somatic tissues (blood cells and in vitro derived neurons) from these patients in two other parallel ongoing studies of our group. For this, fathers of ASD patients included in the wider ongoing study of our group are being recruited. Their semen will be collected and the sperm will be purified. The sperm miRNA will be isolated and submitted to RT-qPCR for quantitative analysis. This study can contribute to future investigations about the paternal epigenetic inheritance of ASD.