Research shows: genetic abnormalities are related to cerebral palsy

A new study published in the journal Nature found that there is an association between cerebral palsy and genetic variation. This surprising discovery challenges the claim that environmental factors are the only cause of cerebral palsy.

According to study co-author Stephen Scherer, many people were not optimistic about this study at first, because for many years it was believed that genes had no effect on cerebral palsy.

After examining the genes of 115 children with cerebral palsy and their parents, the researchers found that 10% of these children had chromosomal abnormalities. Scherer said that 10% is a very significant ratio, and this discovery is very shocking.

According to the researchers, the location of the problem with the gene of the child with the mutation is in the copy number variation region.

It is understood that copy number variation refers to the increase or decrease in the copy number of large genome fragments with a length of more than 1 kb. The variation will cause only one or three copies of the gene copied from both parents. One of the genes may be Deleted or copied additionally.

Scherer said that everyone has copy number variation, but the children in the study have a lot of copy number variation, which affects dozens to hundreds of genes. Before this, scientists have always believed that cerebral palsy, a common disease that causes physical disabilities in children, is caused by infections or strokes that occur in babies during pregnancy or at birth. People will consider genetic factors only when there is no obvious environmental impact. .

At present, researchers believe that genetic testing should also become a standard testing method to help parents detect abnormalities in their children and detect other diseases early.