5% of cases of autism may result from recessive mutations in genes

large-scale international study found that recessive mutations in genes cause autism more often than previously thought, with 3 to 5 percent of cases linked.
researchers at Boston Children's Hospital and others analyzed data from the "all-out subgroup", the DNA sequence of all the genes that encode proteins, in a study of 2,343 people with autism from the Americas, Europe and the Middle East, as well as 5,852 ordinary people in the control group.
found that recessive mutations in 41 genes trigger autism, 33 of which have never been previously found to be linked to autism. Mutations in these genes fall into two categories, one that causes the gene to lose function, estimated at 2% of all cases, and the other that causes an amino acid in the protein to go wrong, known as a "misalignment mutation", which accounts for 1% to 3% of all cases.
researchers say this is the most in-depth study of recessive mutations and autism to date. Some of the associated mutations are reflected only in a single case, and their effects need to be further studied and confirmed.
incidence of autism is significantly lower in women than in men, but previous studies have shown that women have a higher proportion of autism-related genetic mutations. The new study found the same pattern, further suggesting that the female brain may be more resistant to autism.
In the genetic process of a recessive mutation gene, two copies of the same gene from the parents do not appear if only one is a mutant version; For mutations found in this study, having two mutated versions of a gene significantly increases the risk of autism.
causes of autism are complex and involve a number of genetic and environmental factors. Most of the genetic mutations previously found were new mutations that occurred in the patients themselves, not from their parents. (Source: Xinhua News Agency)
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