\u201cThe study’s main finding is that it demonstrated the importance of genes that command two seemingly different metabolic pathways acting in a unique manner,\u201d says Maria Rita Passos-Bueno, a researcher at the Human Genome and Stem Cell Research Center, which is part of the University of S\u00e3o Paulo’s Institute of Biosciences (IB-USP). \u201cUnderstanding how these pathways converge is a major challenge in the field of autism genetics.\u201d<\/p>\n\n\n\n

The patient whose genetic material was first analyzed separately has Asperger’s Syndrome, says Passos-Bueno, who coauthored the international article. \u201cIt is a mild form, and he currently has a very successful professional career. It is important to understand the genetics of this group of individuals, who usually have milder cases,\u201d explains the researcher.<\/p>\n\n\n\n

All of the work performed jointly by Brazilians and Canadians is carried out in vitro. As an experimental model, the researchers use neural progenitor cells derived from pluripotent stem cells taken from both the patient and the individuals in the control group to trace the impacts of genetic mutations on neurobiological pathways.<\/p>\n\n\n\n

To this day, there are few studies that delve into the existing genetic interactions between different rare and potentially deleterious variants found in patients. Researchers also do not know how many variants are needed to trigger ASD. The recent study, emphasizes Serti\u00e9, suggests that calcium channels and the Reelin pathway may be behind ASD, but there are still many steps to be taken before this is fully assured.<\/p>\n\n\n\n

\u201cThe idea now is to reconstruct the entire process, correcting the mutations in 3D systems. Or even inducing them in individuals in the control group,\u201d explains the HIAE researcher. According to her, another future step should be attempting to reconstruct the ASD phenotype through medication. \u201cIt is also important to know when the mutations occurred.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"

A study seeks to identify how genetic mutations linked to autism interfere in neurological development<\/p>\n","protected":false},"author":2,"featured_media":1960,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"inline_featured_image":false,"footnotes":""},"categories":[85],"tags":[],"autor":[125],"temas":[],"chapeu":[194],"class_list":["post-1779","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news","autor-eduardo-geraque-2","chapeu-genetics"],"acf":[],"yoast_head":"\n