Tuesday, 16 November 2010

Exome Sequencing hints at sporadic mutations as cause for mental retardation.

1st spotted off Genomeweb
NEW YORK (GenomeWeb News) – De novo mutations that spring up in children but are absent in their parents are likely the culprit in many unexplained cases of mental retardation, according to a Dutch team.
Using exome sequencing in 10 parent-child trios, the researchers found nine non-synonymous mutations in children with mental retardation that were not found in their parents, including half a dozen mutations that appear to be pathogenic. The research, which appeared online yesterday in Nature Genetics, hints at an under-appreciated role for sporadic mutations in mental retardation — and underscores the notion that mental retardation can stem from changes in a wide variety of genes.

 I think it's fascinating to find so many new mutations and changes in DNA that may affect one's quality of life, simply by sequencing the coding regions (and not all of it if I may add). This paper is fascinating as it raises the question if deleterious sporadic mutations are unlikely culprits for a whole variety of diseases that have a genetic risk.
it is certainly more likely that such an event will occur in coding regions but I do not doubt that for some diseases, perhaps the non-coding regions (that play a regulatory role) might have the same effect. If it was a clear cut mutation that results in a dysfunctional protein, and there's no redundancy in the system, it is likely the system will crash. whereas, if it was changes in the expression levels, it might lead to a slightly wobbly system that just doesn't function as well.

While everyone else is waiting for Whole Genome Sequencing to drop in price. There are groups already publishing with exome data. I think in 6 months time, we will see more WGS papers coming up... It's an exciting time for Genomics science!

See the full paper below

A de novo paradigm for mental retardation Nature Genetics | Letter


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Datanami, Woe be me