Friday, July 8, 2011

Genetics, Epigenetics and FASD Part I

Alcohol and genes don't mix.

A growing body of hard scientific research now links the developmental and behavioral challenges of Fetal Alcohol Spectrum Disorders to changes at the DNA level (genetics) and just above it (epigenetics) triggered by alcohol.

That isn't quite as bad as it sounds. Scientists have long understood that a plethora of human ills from diabetes to cancer arise from harmful genetic mutations. The news is simply that FASD is now on that list. In this post, I will highlight recent genetic insights into the effects of prenatal exposure to alcohol (PAE). In the next post I'll summarize the current research on epigenetics in FASD.

This article  (abstract linked) that appeared in the July 6, 2011 issue of Nature, discussed research in which scientists demonstrated the mechanism by which permanent (heritable) DNA mutations occurred in genetically vulnerable mice exposed to alcohol in utero. Kari linked yesterday to this news summary digesting the findings.

The article raises significant questions for those of us kids with PAE: whether exposed kids who have an FASD carry a genetic mutation or not, and whether exposed kids who are not diagnosed (like those who seem to escape exposure without significant developmental delays or behavioral issues) can be carriers of unexpressed genetic mutations. Scientists have not yet published research commenting on that.

The flip side is that the same research identified the genetically-controlled metabolic mechanisms that enable some mice to withstand prenatal exposure to alcohol without permanent genetic changes. That is a significant step toward future therapy that potentially may screen for and repair any genetic damage than may be caused by prenatal exposure.

However, the epigentic findings may be even more interesting because they help explain the extremely wide range of effects of PAE, including that facts that some heavily exposed kids seem to escape unscathed, while other more mildly exposed kids (those we used to think were at less risk) can have clinically significant FASD. That will be the subject of my next post.

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