Inherited genetic variants associated to autism
An accurate genetic analysis on 2600 families with at least one member of an autism spectrum disorder has shown that in the development of the pathology inherited genetic variants may be implicated that are found in non-coding regions of the genome, that is, external to genes.
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The development of autism spectrum disorders is also linked to inherited genetic variants found in non-coding regions of the genome. This is shown by a group of researchers from the University of California at San Diego and Rady Children's Hospital, also in San Diego, who sign an article in "Science" .
Previous research has shown that mutations in genes, which encode proteins, play a role in the development of autism spectrum disorders. However, these mutations do not explain all cases of autism nor the variety of forms in which it occurs.
For this reason, for some years researchers have started to study other genetic factors that can contribute to the disorder, focusing in particular on the so-called epigenetic factors, ie substances present in the cell (for example particular enzymes) that are able to influence the level of expression of genes but without altering the DNA sequence.
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Less attention, however, had been devoted to the so-called non-coding structural changes of DNA, such as duplications or deletions of nucleotide sequences (the "building blocks" of DNA) in DNA regions that do not encode for proteins, ie outside of genes.
William Brandler and colleagues sequenced the genome of 9274 subjects from 2,600 families in which cases of autism spectrum disorders were present, paying particular attention to changes in the non-coding part of the DNA. The researchers thus isolated 829 families - for a total of 880 subjects affected by some form of autism and 660 healthy - in the genome of which there were no gene variants, neither inherited nor de novo (ie arisen during the process of formation of gametes for a DNA copying error) known to be in some way associated with autism.
The genetic analysis conducted by the researchers showed the presence of various non-coding structural changes of the DNA that had been transmitted with a much higher frequency to the children affected by the disorder than the siblings and which concerned mostly the so-called cis-regulatory elements, DNA regions that contribute to the expression of a gene and are found (unlike other regulators) in the immediate vicinity of the gene.
In addition, Brandler and colleagues have also found that the parents' contribution to these variants is not the same, as they are inherited by the father in more than half of the cases.
Cheers for science' progress
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Great contribution friend @afifa, this is an interesting topic. I love when they mix science and education because you always end up learning something new. Excelent topic. I wish you much success and may God bless you. Greetings.
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