12 Jan Epigenetic Sperm Changes Linked to Autism Risk
MedicalResearch.com Interview with:
Michael Skinner, PhD
Eastlick Distinguished Professor
Founding Director, Center for Reproductive Biology
School of Biological Sciences
Washington State University
MedicalResearch.com: What is the background for this study?
Response: Over twenty years ago we identified the existence of a non-genetic form of inheritance through analysis of environmentally induced epigenetic transgenerational inheritance of disease, now well established in a number of species including humans. I was giving a talk on this topic at a meeting in Spain. This study was initiated following the scientific meeting in Spain with an in vitro fertilization clinical group that said they had access to sperm from males with and without autistic children. It took several years to collect and characterize the samples, and find financial support for the study. Once this was done then we did the molecular analysis to see if the sperm from fathers with autistic children had epigenetic, DNA methylation alterations, that associated with them having offspring with autism.
MedicalResearch.com: What are the main findings?
Response: We found DNA methylation epimutations in the sperm of fathers with autistic children that were not found in those without autistic children. Blinded test sets of sample showed a greater than 90% accuracy at identifying fathers with autistic children. This helps provide the proof of concept analysis of sperm epimutations could potentially be used to diagnose the susceptibility of a father to have an autistic child, however, expanded clinical trials are now needed to allow such a test to be used in a clinical setting.
MedicalResearch.com: What should readers take away from your report?
Response: That epigenetic alterations (epimutations) in gametes like sperm and eggs have a role in the transmission of disease susceptibility to offspring and future generations. Since environmental factors are involved in the etiology of most disease, including autism, this parental exposure or ancestrally derived epigenetic inheritance needs to be seriously considered in the etiology of autism and other diseases. Specific biomarkers based on this type of technology may allow future diagnostics to be developed to prevent or improve clinical management of many diseases. Although larger clinical studies are needed, this study suggests the potential for useful applications for epimutations diagnostics in the future.
MedicalResearch.com: What recommendations do you have for future research as a result of this work?
Response: Expanded clinical trials are needed in the future to establish such diagnostics, but the potential use in IVF clinics or general populations would allow parents to test for such generational transmission potential and assist in the early clinical intervention to reduce autism severity and improve clinical management of Autism. This applies to other disease conditions in the future as well. The diagnosis of disease susceptibility prior to the onset of disease would facilitate preventative medicine and therapeutics to be used more efficiently to prevent or delay onset of the disease, before it develops. Epigenetic biomarkers will provide a significant advance in medicine and allow a transition from reactionary medicine to preventative medicine in the future.
MedicalResearch.com: Is there anything else you would like to add?
Response: Although we have in increasing number of toxicant, nutritional and stress exposures in our environment that can promote the epigenetic induction of disease in us and our future generations, the advent of epigenetic biomarker and diagnostics in medicine may allow their use to treat the problem in the future.
Nicolás Garrido, Fabio Cruz, Rocio Rivera Egea, Carlos Simon, Ingrid Sadler-Riggleman, Daniel Beck, Eric Nilsson, Millissia Ben Maamar, Michael K. Skinner. Sperm DNA methylation epimutation biomarker for paternal offspring autism susceptibility. Clinical Epigenetics, 2021; 13 (1) DOI: 10.1186/s13148-020-00995-2
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