Sunday, September 4, 2011

what's with skinny genes?

A few weeks ago, a publication in Nature titled: Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus by researchers at Britain's Imperial College London and the University of Lausanne in Switzerland (a cast of 100+ authors) unveiled new information that duplicate copies of a portion found on chromosome 16 (16p11.2locus to be exact) have been identified to contribute to extreme thinness (BMI <18kg/square metre), failure to thrive and microcephaly- predominantly in males. They also reported previously that absence of this region/gene is associated with some forms of morbid obesity.

What does this mean?

This is exciting, but not unexpected news. Now with genome wide association studies in full force- we are witness to the explosion of discoveries of genetic factors contributing to a multitude of pathologies. Of course, this isn't the only answer. There are many cases of extreme obesity/thinness with unknown cause. Some will involve other genes yet to be discovered as well as the many epigenetic and environmental factors which influence and regulate phenotype.

Sure, there's promise of something big, but now comes the long, hard slog -  figuring out how these genes interact with their environment to bring about such phenotypes.

 There is much work ahead...

No comments:

Post a Comment