RORA: Just the Gene For Autism We Wanted!

A post from Psycology today by Christopher Badcock, Ph.D. has the whole story. Here is a part:

The new study has revealed more about how RORA works. As the illustration shows, testosterone--the paradigmatic male sex hormone--acts on androgen receptors (AR) to reduce RORA. Estrogen--the female hormonal counterpart only one atom different--acts onestrogen receptors (ER) to increase RORA. The figure also shows how aromatase (an enzyme responsible for the conversion of testosterone to estrogen) is a target for RORA. The authors note that both RORA and aromatase are strongly correlated in brain tissue and relatively reduced in the frontal cortex of ASD subjects--a region of the brain known to be critically involved in mentalistic cognition. They conclude that the reduction of RORA seen in autism is exacerbated by a negative feedback mechanism involving decreased aromatase level, which further causes accumulation of testosterone.
As the researchers point out, this is the first description of a candidate gene for autism that is responsive to both male and female sex hormones. However, it is also a finding that beautifully endorses the imprinted brain theory because it demonstrates how male genetic influence predisposes to ASD and how the presence of female sex hormones such as estrogen is protective.