Non-coding region gene mutations can also cause autism
Autism is a type of disease that affects a wide range. With the increasing interest in the disease in recent years, more and more people have a deeper understanding of autism.
After years of research, scientists have confirmed that naturally occurring de novo mutations are associated with nearly one-third of autism. In a recent Science study, researchers at the University of California, San Diego (UCSD) found that even if DNA mutations do not affect genes (terms are non-coding regions of mutations), they can still cause autism. The occurrence of the disease has become the chief culprit.
â–²The secret of autism, a considerable part of the hidden in the non-coding region of the genome (Source: Pixabay)
“For ten years, we have all said that the genetic factors of autism are partly due to new mutations in genes encoding protein sequences,†said Jonathan Sebat, a co-author of the study. “But you know, these sequences only account for 2% of the genome."
What is the remaining 98% of the effect on autism? To answer this question, Professor Sebat and his colleagues analyzed the complete genomic data of 9,274 individuals in 2,600 families with the help of two famous companies, Human Longevity and Illumina. Subsequently, the researchers analyzed anomalies in these genomic information, including structural changes, deletion of DNA elements, and replication of DNA elements. From this, researchers hope to find the latest insights about autism.
â–² Researchers have found a lot of variation in non-coding regions (Source: Science)
As a result, even if the genes were not affected, these mutations from the non-coding region were also passed on to the offspring, causing autism. “We also found that these variations are mainly from the father, which is very surprising!†said Dr. William M. Brandler, co-first author of the study.
This discovery can be said to be of great significance. In the past, it was found that in autism caused by coding region variation (often called gene mutation), these mutations are mainly from the mother. Today's study shows that the genetic information of both parents may cause autism in future generations, and there is a fundamental difference between the two.
“This is a very good study that allows us to understand the genetics of autism from a different perspective and is a major contribution to the field.†Dr. Lucia Peixoto, a neuroscientist at Washington State University, The Science magazine commented.
â–² "Science" magazine has a special review of this research (Source: "Science" website screenshot)
Based on these findings, the researchers presented a new interpretation of autism. They believe that the genetic mutations inherited from the mother, combined with the mutations in the non-coding regions inherited by the father, combine to lead to the development of autism symptoms.
With the deepening understanding of autism and the rapid development of gene therapy, one day, perhaps through genome sequencing, we can know in advance the risk of autism in our offspring, and even correct these mutations before the child is born. . We look forward to the early arrival of this day. (Source: Sina)
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