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Scattered Genes

From helix to hairball
From helix to hairball
Dullhunk/ Flickr Commons

The last two weeks have been quite revealing in field of autism research. The first revelation was the CDC announcement that autism was more prevalent than previously thought, and because of heightened physician awareness--doctors knowing what to look for--lead to a report of higher incidences. The second is that genetics plays a bigger role, rather than the environment, in children born with autism. The Science Daily is reporting that the University of Washington found a connection between mutated genes and children, who do not have an ancestry background of autism

About mutations

Scientists at the University of Washington wanted to genetically explain how a child could be born with autism when neither parent had defected genes.

Apparently in autism, gene alteration interrupts normal protein operations. UW scientists have uncovered a passageway associated with adapting Chromatin and variable genes in the brain and nervous system. It is the changes in this passageway that promote the development of autism, albeit that each child will develop it differently. These changes are also a major player in children developing other mentally challenging handicaps and psychiatric disorders.

For the past year UW scientists have been studying families with no history of autism or of autistic like system in their family tree. Originally the study had 20 families with one child who was autistic. They needed to know the sequential order of the exome. Once they learned that, they then expanded the study to include an additional 209 families. They gathered their exomes, and also the exomes from the other children in the same family unit.

From this gene pool 248 mutations were recognized of which 120 were deemed severely damaged. They were forecasted to produce fragmented proteins, consequently carrying the autism risk.

Coincidentally, this study confirmed the work of scientist J.B.S. Haldane, who studied mutations and reproductive behavior. The Science Daily article notes that way back in 1935, Haldane noticed the correlation between the age of the father and the child born with autism. It has come to light in the last year or so, about fathers and their role in a child developing a psychiatric disorder.

In short, the UW Study:

  • Recognized that there is no particular gene that causes autism.
  • Autism can be caused by mutated genes anywhere on the DNA structure.
  • The scientists are credited with the discovery of two mutated genes—NTNG1 and CHD8.
  • They also confirmed the participation of GRIN2B—a glutamate receptor gene—in subgroups of autism.
  • Some documented genes that were previously known to be in association with autism were seen in the DNA of the test subjects

It is only a matter of time before the mystery of autism is solved, but then the next question becomes how will we prevent autism from occurring in the future?


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