While a diagnosis of autism can be devastating for a family, the important point is that transcripts of non-coding DNA, even if they do not yield proteins, still influence the health of the individual. The Simons Foundation calls this discovery a first.
Research into the genes of 1,790 patients not having a prior family history of autism led to the inference that the condition was due to mutations. Notice how the researchers say that "junk DNA" is a misnomer, and that the implications of their finding extend beyond this particular condition.
The analysis predicted the ramifications of genetic mutations in parts of the genome that do not encode proteins, regions often mischaracterized as 'junk' DNA. The number of autism cases linked to the noncoding mutations was comparable to the number of cases linked to protein-coding mutations that disable gene function.
The implications of the work extend beyond autism, Troyanskaya says. "This is the first clear demonstration of non-inherited, noncoding mutations causing any complex human disease or disorder." By "non-inherited mutations," the scientists refer to spontaneous mutations in that individual, not mutations passed down from the parents.
What the research shows is that mutations in so-called "junk" DNA can also be implicated in diseases as diverse as cancer and heart disease. The non-coding DNA, therefore, is not "genetic dead weight," but has functional importance even if it is not transcribed into proteins. The lead scientist essentially calls the "junk DNA" myth a science stopper...read more>>>...
